diff --git "a/VCI/parsing_csr_criteria/cspec_version_guide_processed.csv" "b/VCI/parsing_csr_criteria/cspec_version_guide_processed.csv" new file mode 100644--- /dev/null +++ "b/VCI/parsing_csr_criteria/cspec_version_guide_processed.csv" @@ -0,0 +1,474 @@ +Title,Genes,Version,Released Date,Link,path +Cardiomyopathy,MYH7,2.0.0,4/22/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN002?version=2.0.0,ClinGenCardiomyopathyExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforMYH7Version2.0.0_version=2.0.0.csv +Cardiomyopathy,MYH7,1.0.0,6/25/2017,https://cspec.genome.network/cspec/ui/svi/doc/GN002?version=1.0.0,ClinGenCardiomyopathyExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +PTEN,PTEN,3.1.0,3/14/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN003?version=3.1.0,ClinGenPTENExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforPTENVersion3.1.0_version=3.1.0.csv +PTEN,PTEN,3.0.0,3/27/2023,https://cspec.genome.network/cspec/ui/svi/doc/GN003?version=3.0.0,ClinGenPTENExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforPTENVersion3.0.0_version=3.0.0.csv +PTEN,PTEN,2.0.0,9/10/2019,https://cspec.genome.network/cspec/ui/svi/doc/GN003?version=2.0.0,ClinGenPTENExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion2_version=2.0.0.csv +PTEN,PTEN,1.0.0,8/17/2018,https://cspec.genome.network/cspec/ui/svi/doc/GN003?version=1.0.0,ClinGenPTENExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforPTENVersion1.0.0_version=1.0.0.csv +Hearing Loss,CDH23,2.0.0,3/30/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=2.0.0,"ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforCDH23,COCH,GJB2,KCNQ4,MYO6,MYO7A,SLC26A4,TECTAandUSH2AVersion2_version=2.0.0.csv" +Hearing Loss,COCH,2.0.0,3/30/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=2.0.0,"ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforCDH23,COCH,GJB2,KCNQ4,MYO6,MYO7A,SLC26A4,TECTAandUSH2AVersion2_version=2.0.0.csv" +Hearing Loss,GJB2,2.0.0,3/30/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=2.0.0,"ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforCDH23,COCH,GJB2,KCNQ4,MYO6,MYO7A,SLC26A4,TECTAandUSH2AVersion2_version=2.0.0.csv" +Hearing Loss,KCNQ4,2.0.0,3/30/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=2.0.0,"ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforCDH23,COCH,GJB2,KCNQ4,MYO6,MYO7A,SLC26A4,TECTAandUSH2AVersion2_version=2.0.0.csv" +Hearing Loss,MYO6,2.0.0,3/30/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=2.0.0,"ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforCDH23,COCH,GJB2,KCNQ4,MYO6,MYO7A,SLC26A4,TECTAandUSH2AVersion2_version=2.0.0.csv" +Hearing Loss,MYO7A,2.0.0,3/30/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=2.0.0,"ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforCDH23,COCH,GJB2,KCNQ4,MYO6,MYO7A,SLC26A4,TECTAandUSH2AVersion2_version=2.0.0.csv" +Hearing Loss,SLC26A4,2.0.0,3/30/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=2.0.0,"ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforCDH23,COCH,GJB2,KCNQ4,MYO6,MYO7A,SLC26A4,TECTAandUSH2AVersion2_version=2.0.0.csv" +Hearing Loss,TECTA,2.0.0,3/30/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=2.0.0,"ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforCDH23,COCH,GJB2,KCNQ4,MYO6,MYO7A,SLC26A4,TECTAandUSH2AVersion2_version=2.0.0.csv" +Hearing Loss,USH2A,2.0.0,3/30/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=2.0.0,"ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforCDH23,COCH,GJB2,KCNQ4,MYO6,MYO7A,SLC26A4,TECTAandUSH2AVersion2_version=2.0.0.csv" +Hearing Loss,TECTA,1.0.0,8/15/2018,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=1.0.0,ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +Hearing Loss,KCNQ4,1.0.0,8/15/2018,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=1.0.0,ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +Hearing Loss,SLC26A4,1.0.0,8/15/2018,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=1.0.0,ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +Hearing Loss,MYO7A,1.0.0,8/15/2018,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=1.0.0,ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +Hearing Loss,USH2A,1.0.0,8/15/2018,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=1.0.0,ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +Hearing Loss,MYO6,1.0.0,8/15/2018,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=1.0.0,ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +Hearing Loss,GJB2,1.0.0,8/15/2018,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=1.0.0,ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +Hearing Loss,COCH,1.0.0,8/15/2018,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=1.0.0,ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +Hearing Loss,CDH23,1.0.0,8/15/2018,https://cspec.genome.network/cspec/ui/svi/doc/GN005?version=1.0.0,ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +Phenylketonuria,PAH,2.0.0,7/16/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN006?version=2.0.0,ClinGenPhenylketonuriaExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforPAHVersion2.0.0_version=2.0.0.csv +PAH,PAH,1.0.0,3/2/2018,https://cspec.genome.network/cspec/ui/svi/doc/GN006?version=1.0.0,ClinGenPAHExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +CDH1,CDH1,3.1.0,3/29/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN007?version=3.1.0,ClinGenCDH1ExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion3.1_version=3.1.0.csv +CDH1,CDH1,3.0.0,9/21/2021,https://cspec.genome.network/cspec/ui/svi/doc/GN007?version=3.0.0,ClinGenCDH1ExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion3_version=3.0.0.csv +CDH1,CDH1,2.0.0,9/6/2019,https://cspec.genome.network/cspec/ui/svi/doc/GN007?version=2.0.0,ClinGenCDH1ExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion2_version=2.0.0.csv +CDH1,CDH1,1.0.0,9/19/2018,https://cspec.genome.network/cspec/ui/svi/doc/GN007?version=1.0.0,ClinGenCDH1ExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforCDH1Version1.0.0_version=1.0.0.csv +Myeloid Malignancy,RUNX1,2.0.0,9/15/2021,https://cspec.genome.network/cspec/ui/svi/doc/GN008?version=2.0.0,ClinGenMyeloidMalignancyExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion2_version=2.0.0.csv +Myeloid Malignancy,RUNX1,1.0.0,7/10/2019,https://cspec.genome.network/cspec/ui/svi/doc/GN008?version=1.0.0,ClinGenMyeloidMalignancyExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +TP53,TP53,2.3.0,2/7/2025,https://cspec.genome.network/cspec/ui/svi/doc/GN009?version=2.3.0,ClinGenTP53ExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforTP53Version2.3.0_version=2.3.0.csv +TP53,TP53,2.2.0,9/30/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN009?version=2.2.0,ClinGenTP53ExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforTP53Version2.2.0_version=2.2.0.csv +TP53,TP53,2.1.0,9/13/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN009?version=2.1.0,ClinGenTP53ExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforTP53Version2.1.0_version=2.1.0.csv +TP53,TP53,2.0.0,7/30/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN009?version=2.0.0,ClinGenTP53ExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforTP53Version2.0.0_version=2.0.0.csv +TP53,TP53,1.4.0,7/5/2023,https://cspec.genome.network/cspec/ui/svi/doc/GN009?version=1.4.0,ClinGenTP53ExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforTP53Version1.4.0_version=1.4.0.csv +TP53,TP53,1.3.0,3/8/2023,https://cspec.genome.network/cspec/ui/svi/doc/GN009?version=1.3.0,ClinGenTP53ExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforTP53Version1.3.0_version=1.3.0.csv +TP53,TP53,1.2.0,8/6/2019,https://cspec.genome.network/cspec/ui/svi/doc/GN009?version=1.2.0,ClinGenTP53ExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1.2_version=1.2.0.csv +TP53,TP53,1.0.0,8/6/2019,https://cspec.genome.network/cspec/ui/svi/doc/GN009?version=1.0.0,ClinGenTP53ExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforTP53Version1.0.0_version=1.0.0.csv +Lysosomal Storage Disorders Variant Curation,GAA,2.0.0,6/2/2021,https://cspec.genome.network/cspec/ui/svi/doc/GN010?version=2.0.0,ClinGenLysosomalStorageDisordersVariantCurationExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion2_version=2.0.0.csv +Platelet Disorders,ITGA2B,2.1.0,11/1/2021,https://cspec.genome.network/cspec/ui/svi/doc/GN011?version=2.1.0,ClinGenPlateletDisordersExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion2.1_version=2.1.0.csv +Platelet Disorders,ITGB3,2.1.0,11/1/2021,https://cspec.genome.network/cspec/ui/svi/doc/GN011?version=2.1.0,ClinGenPlateletDisordersExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion2.1_version=2.1.0.csv +Platelet Disorders,ITGA2B,2.0.0,9/4/2020,https://cspec.genome.network/cspec/ui/svi/doc/GN011?version=2.0.0,ClinGenPlateletDisordersExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion2.0_version=2.0.0.csv +Platelet Disorders,ITGB3,2.0.0,9/4/2020,https://cspec.genome.network/cspec/ui/svi/doc/GN011?version=2.0.0,ClinGenPlateletDisordersExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion2.0_version=2.0.0.csv +Platelet Disorders,ITGA2B,1.0.0,6/12/2020,https://cspec.genome.network/cspec/ui/svi/doc/GN011?version=1.0.0,ClinGenPlateletDisordersExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforITGA2BVersion1.0.0_version=1.0.0.csv +Platelet Disorders,ITGB3,1.0.0,6/12/2020,https://cspec.genome.network/cspec/ui/svi/doc/GN011?version=1.0.0,ClinGenPlateletDisordersExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforITGA2BVersion1.0.0_version=1.0.0.csv +Malignant Hyperthermia Susceptibility,RYR1,2.0.0,3/1/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN012?version=2.0.0,ClinGenMalignantHyperthermiaSusceptibilityExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforRYR1Version2_version=2.0.0.csv +Malignant Hyperthermia Susceptibility,RYR1,1.0.0,11/9/2020,https://cspec.genome.network/cspec/ui/svi/doc/GN012?version=1.0.0,ClinGenMalignantHyperthermiaSusceptibilityExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +Familial Hypercholesterolemia,LDLR,1.2.0,11/9/2021,https://cspec.genome.network/cspec/ui/svi/doc/GN013?version=1.2.0,ClinGenFamilialHypercholesterolemiaExpertPanelSpecificationstotheACMGAMPVariantClassificationGuidelinesVersion1.2_version=1.2.0.csv +Mitochondrial Disease Nuclear and Mitochondrial,SLC19A3,1.0.0,4/30/2020,https://cspec.genome.network/cspec/ui/svi/doc/GN014?version=1.0.0,ClinGenMitochondrialDiseaseNuclearandMitochondrialExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_ntDNA_version=1.0.0.csv +Mitochondrial Disease Nuclear and Mitochondrial,PDHA1,1.0.0,4/30/2020,https://cspec.genome.network/cspec/ui/svi/doc/GN014?version=1.0.0,ClinGenMitochondrialDiseaseNuclearandMitochondrialExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_ntDNA_version=1.0.0.csv +Mitochondrial Disease Nuclear and Mitochondrial,POLG,1.0.0,4/30/2020,https://cspec.genome.network/cspec/ui/svi/doc/GN014?version=1.0.0,ClinGenMitochondrialDiseaseNuclearandMitochondrialExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_ntDNA_version=1.0.0.csv +Mitochondrial Disease Nuclear and Mitochondrial,ETHE1,1.0.0,4/30/2020,https://cspec.genome.network/cspec/ui/svi/doc/GN014?version=1.0.0,ClinGenMitochondrialDiseaseNuclearandMitochondrialExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_ntDNA_version=1.0.0.csv +Mitochondrial Disease Nuclear and Mitochondrial,,1.0.0,4/30/2020,https://cspec.genome.network/cspec/ui/svi/doc/GN015?version=1.0.0,ClinGenMitochondrialDiseaseNuclearandMitochondrialExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_mtDNA_version=1.0.0.csv +Monogenic Diabetes,HNF1A,2.1.0,8/11/2023,https://cspec.genome.network/cspec/ui/svi/doc/GN017?version=2.1.0,ClinGenMonogenicDiabetesExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforHNF1AVersion2.1.0_version=2.1.0.csv +Monogenic Diabetes,HNF1A,2.0.0,1/11/2023,https://cspec.genome.network/cspec/ui/svi/doc/GN017?version=2.0.0,ClinGenMonogenicDiabetesExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforHNF1AVersion2.0.0_version=2.0.0.csv +Monogenic Diabetes,HNF1A,1.2.0,6/5/2021,https://cspec.genome.network/cspec/ui/svi/doc/GN017?version=1.2.0,ClinGenMonogenicDiabetesExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1.2_version=1.2.0.csv +Monogenic Diabetes,HNF1A,1.1.0,6/5/2021,https://cspec.genome.network/cspec/ui/svi/doc/GN017?version=1.1.0,ClinGenMonogenicDiabetesExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1.1_version=1.1.0.csv +Monogenic Diabetes,HNF1A,1.0.0,6/4/2021,https://cspec.genome.network/cspec/ui/svi/doc/GN017?version=1.0.0,ClinGenMonogenicDiabetesExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforHNF1AVersion1.0.0_version=1.0.0.csv +Brain Malformations,AKT3,1.1.0,8/19/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN018?version=1.1.0,ClinGenBrainMalformationsExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1.1.0_version=1.1.0.csv +Brain Malformations,MTOR,1.1.0,8/19/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN018?version=1.1.0,ClinGenBrainMalformationsExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1.1.0_version=1.1.0.csv +Brain Malformations,PIK3CA,1.1.0,8/19/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN018?version=1.1.0,ClinGenBrainMalformationsExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1.1.0_version=1.1.0.csv +Brain Malformations,PIK3R2,1.1.0,8/19/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN018?version=1.1.0,ClinGenBrainMalformationsExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1.1.0_version=1.1.0.csv +Brain Malformations,AKT3,1.0.0,5/15/2021,https://cspec.genome.network/cspec/ui/svi/doc/GN018?version=1.0.0,ClinGenBrainMalformationsExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +Brain Malformations,MTOR,1.0.0,5/15/2021,https://cspec.genome.network/cspec/ui/svi/doc/GN018?version=1.0.0,ClinGenBrainMalformationsExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +Brain Malformations,PIK3CA,1.0.0,5/15/2021,https://cspec.genome.network/cspec/ui/svi/doc/GN018?version=1.0.0,ClinGenBrainMalformationsExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +Brain Malformations,PIK3R2,1.0.0,5/15/2021,https://cspec.genome.network/cspec/ui/svi/doc/GN018?version=1.0.0,ClinGenBrainMalformationsExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +Glaucoma,MYOC,2.0.0,12/12/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN019?version=2.0.0,ClinGenGlaucomaExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforMYOCVersion2.0.0_version=2.0.0.csv +Glaucoma,MYOC,1.1.0,11/19/2021,https://cspec.genome.network/cspec/ui/svi/doc/GN019?version=1.1.0,ClinGenGlaucomaExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1.1_version=1.1.0.csv +Glaucoma,MYOC,1.0.0,10/12/2021,https://cspec.genome.network/cspec/ui/svi/doc/GN019?version=1.0.0,ClinGenGlaucomaExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +"Hereditary Breast, Ovarian and Pancreatic Cancer",ATM,1.3.0,3/27/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN020?version=1.3.0,"ClinGenHereditaryBreast,OvarianandPancreaticCancerExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforATMVersion1.3.0_version=1.3.0.csv" +"Hereditary Breast, Ovarian and Pancreatic Cancer",ATM,1.2.0,11/28/2023,https://cspec.genome.network/cspec/ui/svi/doc/GN020?version=1.2.0,"ClinGenHereditaryBreast,OvarianandPancreaticCancerExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforATMVersion1.2.0_version=1.2.0.csv" +"Hereditary Breast, Ovarian and Pancreatic Cancer",ATM,1.1.0,2/25/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN020?version=1.1.0,"ClinGenHereditaryBreast,OvarianandPancreaticCancerExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforATMVersion1.1_version=1.1.0.csv" +"Hereditary Breast, Ovarian and Pancreatic Cancer",ATM,1.0.0,1/19/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN020?version=1.0.0,"ClinGenHereditaryBreast,OvarianandPancreaticCancerExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforATMVersion1_version=1.0.0.csv" +ACADVL,ACADVL,1.0.0,11/9/2021,https://cspec.genome.network/cspec/ui/svi/doc/GN021?version=1.0.0,ClinGenACADVLExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +FBN1,FBN1,1.0.0,1/5/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN022?version=1.0.0,ClinGenFBN1ExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesVersion1_version=1.0.0.csv +Hearing Loss,MYO15A,1.0.0,3/30/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN023?version=1.0.0,ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforOTOFandMYO15AVersion1_version=1.0.0.csv +Hearing Loss,OTOF,1.0.0,3/30/2022,https://cspec.genome.network/cspec/ui/svi/doc/GN023?version=1.0.0,ClinGenHearingLossExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforOTOFandMYO15AVersion1_version=1.0.0.csv +DICER1 and miRNA-Processing Gene,DICER1,1.3.0,1/30/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN024?version=1.3.0,ClinGenDICER1andmiRNA-ProcessingGeneExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforDICER1Version1.3.0_version=1.3.0.csv +DICER1 and miRNA-Processing Gene,DICER1,1.2.0,5/31/2023,https://cspec.genome.network/cspec/ui/svi/doc/GN024?version=1.2.0,ClinGenDICER1andmiRNA-ProcessingGeneExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforDICER1Version1.2.0_version=1.2.0.csv +DICER1 and 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Immunodeficiency Disease,ADA,1.0.0,10/9/2023,https://cspec.genome.network/cspec/ui/svi/doc/GN114?version=1.0.0,ClinGenSevereCombinedImmunodeficiencyDiseaseExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforADAVersion1.0.0_version=1.0.0.csv +InSiGHT Hereditary Colorectal Cancer/Polyposis,MLH1,1.0.0,8/9/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN115?version=1.0.0,ClinGenInSiGHTHereditaryColorectalCancerPolyposisExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforMLH1Version1.0.0_version=1.0.0.csv +Severe Combined Immunodeficiency Disease,DCLRE1C,1.0.0,10/9/2023,https://cspec.genome.network/cspec/ui/svi/doc/GN116?version=1.0.0,ClinGenSevereCombinedImmunodeficiencyDiseaseExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforDCLRE1CVersion1.0.0_version=1.0.0.csv +Severe Combined Immunodeficiency Disease,IL7R,1.0.0,10/9/2023,https://cspec.genome.network/cspec/ui/svi/doc/GN119?version=1.0.0,ClinGenSevereCombinedImmunodeficiencyDiseaseExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforIL7RVersion1.0.0_version=1.0.0.csv +Leber Congenital Amaurosis/early onset Retinal Dystrophy,RPE65,1.0.0,10/24/2023,https://cspec.genome.network/cspec/ui/svi/doc/GN120?version=1.0.0,ClinGenLeberCongenitalAmaurosisearlyonsetRetinalDystrophyExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforRPE65Version1.0.0_version=1.0.0.csv +Severe Combined Immunodeficiency Disease,JAK3,1.0.0,10/9/2023,https://cspec.genome.network/cspec/ui/svi/doc/GN121?version=1.0.0,ClinGenSevereCombinedImmunodeficiencyDiseaseExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforJAK3Version1.0.0_version=1.0.0.csv +Severe Combined Immunodeficiency Disease,RAG1,1.0.0,10/9/2023,https://cspec.genome.network/cspec/ui/svi/doc/GN123?version=1.0.0,ClinGenSevereCombinedImmunodeficiencyDiseaseExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforRAG1Version1.0.0_version=1.0.0.csv +Severe Combined Immunodeficiency Disease,RAG2,1.0.0,10/9/2023,https://cspec.genome.network/cspec/ui/svi/doc/GN124?version=1.0.0,ClinGenSevereCombinedImmunodeficiencyDiseaseExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforRAG2Version1.0.0_version=1.0.0.csv +Pulmonary Hypertension,BMPR2,1.1.0,4/6/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN125?version=1.1.0,ClinGenPulmonaryHypertensionExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforBMPR2Version1.1.0_version=1.1.0.csv +Pulmonary Hypertension,BMPR2,1.0.0,3/1/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN125?version=1.0.0,ClinGenPulmonaryHypertensionExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforBMPR2Version1.0.0_version=1.0.0.csv +RASopathy,RRAS2,1.3.0,12/3/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN127?version=1.3.0,ClinGenRASopathyExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforRRAS2Version1.3.0_version=1.3.0.csv +RASopathy,RRAS2,1.2.0,12/2/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN127?version=1.2.0,ClinGenRASopathyExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforRRAS2Version1.2.0_version=1.2.0.csv +RASopathy,RRAS2,1.1.0,9/17/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN127?version=1.1.0,ClinGenRASopathyExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforRRAS2Version1.1.0_version=1.1.0.csv 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Telangiectasia,ACVRL1,1.0.0,3/5/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN135?version=1.0.0,ClinGenHereditaryHemorrhagicTelangiectasiaExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforACVRL1Version1.0.0_version=1.0.0.csv +Hereditary Hemorrhagic Telangiectasia,ENG,1.1.0,3/20/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN136?version=1.1.0,ClinGenHereditaryHemorrhagicTelangiectasiaExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforENGVersion1.1.0_version=1.1.0.csv +Hereditary Hemorrhagic Telangiectasia,ENG,1.0.0,3/5/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN136?version=1.0.0,ClinGenHereditaryHemorrhagicTelangiectasiaExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforENGVersion1.0.0_version=1.0.0.csv +InSiGHT Hereditary Colorectal Cancer/Polyposis,MSH2,1.0.0,8/9/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN137?version=1.0.0,ClinGenInSiGHTHereditaryColorectalCancerPolyposisExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforMSH2Version1.0.0_version=1.0.0.csv +InSiGHT Hereditary Colorectal Cancer/Polyposis,MSH6,1.0.0,8/9/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN138?version=1.0.0,ClinGenInSiGHTHereditaryColorectalCancerPolyposisExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforMSH6Version1.0.0_version=1.0.0.csv +InSiGHT Hereditary Colorectal Cancer/Polyposis,PMS2,1.0.0,8/9/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN139?version=1.0.0,ClinGenInSiGHTHereditaryColorectalCancerPolyposisExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforPMS2Version1.0.0_version=1.0.0.csv +InSiGHT Hereditary Colorectal 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Myopathies,DNM2,1.0.0,8/7/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN148?version=1.0.0,ClinGenCongenitalMyopathiesExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforDNM2Version1.0.0_version=1.0.0.csv +Congenital Myopathies,MTM1,1.0.0,8/7/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN149?version=1.0.0,ClinGenCongenitalMyopathiesExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforMTM1Version1.0.0_version=1.0.0.csv +Congenital Myopathies,RYR1,2.0.0,12/12/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN150?version=2.0.0,ClinGenCongenitalMyopathiesExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforRYR1Version2.0.0_version=2.0.0.csv +Congenital Myopathies,RYR1,1.0.0,8/7/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN150?version=1.0.0,ClinGenCongenitalMyopathiesExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforRYR1Version1.0.0_version=1.0.0.csv +Leber Congenital Amaurosis/early onset Retinal Dystrophy,GUCY2D,1.0.0,1/22/2025,https://cspec.genome.network/cspec/ui/svi/doc/GN167?version=1.0.0,ClinGenLeberCongenitalAmaurosisearlyonsetRetinalDystrophyExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforGUCY2DVersion1.0.0_version=1.0.0.csv +Congenital Myopathies,ACTA1,1.0.0,8/7/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN169?version=1.0.0,ClinGenCongenitalMyopathiesExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforACTA1Version1.0.0_version=1.0.0.csv +Congenital Myopathies,RYR1,2.0.0,12/12/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN179?version=2.0.0,ClinGenCongenitalMyopathiesExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforRYR1Version2.0.0_version=2.0.0.csv +Congenital Myopathies,RYR1,1.0.0,8/7/2024,https://cspec.genome.network/cspec/ui/svi/doc/GN179?version=1.0.0,ClinGenCongenitalMyopathiesExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforRYR1Version1.0.0_version=1.0.0.csv +Limb Girdle Muscular Dystrophy,DYSF,1.0.0,1/7/2025,https://cspec.genome.network/cspec/ui/svi/doc/GN180?version=1.0.0,ClinGenLimbGirdleMuscularDystrophyExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforDYSFVersion1.0.0_version=1.0.0.csv +Limb Girdle Muscular Dystrophy,SGCB,1.0.0,1/7/2025,https://cspec.genome.network/cspec/ui/svi/doc/GN184?version=1.0.0,ClinGenLimbGirdleMuscularDystrophyExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforSGCBVersion1.0.0_version=1.0.0.csv +Limb Girdle Muscular Dystrophy,SGCG,1.0.0,1/7/2025,https://cspec.genome.network/cspec/ui/svi/doc/GN185?version=1.0.0,ClinGenLimbGirdleMuscularDystrophyExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforSGCGVersion1.0.0_version=1.0.0.csv +Limb Girdle Muscular Dystrophy,SGCD,1.0.0,1/7/2025,https://cspec.genome.network/cspec/ui/svi/doc/GN186?version=1.0.0,ClinGenLimbGirdleMuscularDystrophyExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforSGCDVersion1.0.0_version=1.0.0.csv +Limb Girdle Muscular Dystrophy,CAPN3,1.0.0,1/7/2025,https://cspec.genome.network/cspec/ui/svi/doc/GN187?version=1.0.0,ClinGenLimbGirdleMuscularDystrophyExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforCAPN3Version1.0.0_version=1.0.0.csv +Limb Girdle Muscular Dystrophy,ANO5,1.0.0,1/7/2025,https://cspec.genome.network/cspec/ui/svi/doc/GN188?version=1.0.0,ClinGenLimbGirdleMuscularDystrophyExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforANO5Version1.0.0_version=1.0.0.csv +Limb Girdle Muscular Dystrophy,SGCA,1.0.0,1/7/2025,https://cspec.genome.network/cspec/ui/svi/doc/GN189?version=1.0.0,ClinGenLimbGirdleMuscularDystrophyExpertPanelSpecificationstotheACMGAMPVariantInterpretationGuidelinesforSGCAVersion1.0.0_version=1.0.0.csv