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    Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy | Circulation: Cardiovascular Genetics
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    1. ClingenBaseline 21 Oct 2026

      Supplementary Data, Table 2

      Case: Australian

      DiseaseAssertion: HCM

      CaseHPOFreeText: maximum left ventricular wall thickness of ≥15 mm

      CasePreviousTesting: electrocardiography, echocardiography, Full testing (MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL2, MYL3, ACTC1)

      CaseGenotypingMethod: DNA isolated from peripheral blood or buccal swabs, PCR, Sanger sequencing, segregation analysis, haplotype analysis of MYBPC3 and MYH7

      Variant: NM_000257.3(MYH7):c.2722C>G (p.Leu908Val)

      ClinVar: 14097, https://www.ncbi.nlm.nih.gov/clinvar/variation/14097/

      gnomAD: 0.00003185, https://gnomad.broadinstitute.org/variant/14-23893316-G-C

      Individual CaseInfo HCM FullPreviousTesting NoInheritanceAssertion ClinVarID:14097 SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ahajournals.org/doi/full/10.1161/CIRCGENETICS.116.001671