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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: 52

      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

      Variant: NM_000257.4(MYH7):c.2451C>A (p.Asn817Lys)

      ClinVar: 235029, https://www.ncbi.nlm.nih.gov/clinvar/variation/235029/

      gnomAD: absent

      MultipleGeneVariants:

      (1) TTN Variant

      Variant: NM_001267550.2(TTN):c.74597_74599CAA[1] (p.Thr24867del)

      ClinVar: 165840, https://www.ncbi.nlm.nih.gov/clinvar/variation/165840/

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion ClinVarID:235029 MultipleGeneVariants PreviousTesting:Additional Mutation:Germline SupplementalData inferred_gene_hgnc:1101 inferred_gene_source:ClinVar Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6437444/