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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system
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    1. ClingenBaseline 28 Oct 2026
      A94

      Case#: A94, male, age 57; Chinese family

      DiseaseAssertion: Hypertrophic cardiomyopathy

      FamilyInfo: positive family history of cardiomyopathy

      ParentalTesting: NR

      CasePresentingHPOs: HP:0001712 HP:0005144

      CaseHPOFreeText: Interventricular septal thickness was 16.3 mm

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      Genotyping Method: Targeted sequencing using the Ion Torrent PGM system with Sanger sequencing confirmation.

      FunctionalAnalysis: NR

      Variant: MYBPC3 c.706A>G (p.Ser236Gly), missense

      ClinVar: 42786

      CAID: CA015725

      gnomAD: 0.09513

      HP:0001712 HP:0005144 Gene:MYBPC3 CAID:CA015725 ClinVarID:42786 inferred_gene_hgnc:7551 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC4867886/