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    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 21 Oct 2026

      Table 1 and 4

      Case A36: Female, 49yo

      DiseaseAssertion: HCM

      FamilyInfo: positive family history

      CaseHPOFreeText: interventricular septum thickness = 22mm, left ventricular end diastolic diameter = 42.2mm, left ventricular end systolic diameter = 31.7mm, left ventricular posterior wall thickness = 10.9mm, left atrium = 32mm, left ventricular ejection fraction = 54%

      CasePreviousTesting: 12-lead ECG, echocardiography, full testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), additional testing (LMNA, PRKAG2, SCN5A, MYH6)

      CaseGenotypingMethod: genomic DNA collected from peripheral whole blood samples, PCR, high-throughput sequencing using PGM Sequencing 400 kit, variants verified via Sanger Sequencing

      Variant: NM_000257.3:c.2654A>C

      CAID: CA389047874, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389047874

      gnomAD: n/a

      Individual CaseInfo HCM NoInheritanceAssertion FamilyInfo FullPreviousTesting AdditionalPreviousTesting CA389047874 SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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