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    Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy
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    1. ClingenBaseline 21 Oct 2026

      Supplementary Data Table S3

      Case: 329

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant1: NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)

      ClinVar: 155814 https://www.ncbi.nlm.nih.gov/clinvar/variation/155814/

      gnomAD: 0.0006368, https://gnomad.broadinstitute.org/variant/14-23891476-C-T

      Variant2: NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)

      ClinVar: 43020 https://www.ncbi.nlm.nih.gov/clinvar/variation/43020/

      gnomAD: 0.01265, https://gnomad.broadinstitute.org/variant/14-23886409-G-C

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:155814 ClinVarID:43020 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6437444/