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    MYH7 Rare Variant in a Family With Double-Chambered Left Ventricle | Circulation: Cardiovascular Genetics
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    1. ClingenBaseline 21 Oct 2026
      III-3

      Case III-3: Female, 6yo

      DiseaseAssertion: Left ventricular hypertrophy

      CasePresentingHPOs: HP:0001712 (left ventricular hypertrophy)

      CaseHPOFreeText: double-chambered left ventricle, asymptomatic, normal thickness of septum and left ventricle, left ventricle ventricle end-diastolic diameter = 53.5mm, left ventricular ejection fraction = 64%

      CasePreviousTesting: same as proband

      CaseGenotypingMethod: Affymetrix Cytoscan 750K Array to check potential candidate copy number variations, segregation analysis using the results from Sanger sequencing

      Variant: NM_000257.3:c.998A>T

      CAID: CA389051586, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389051586

      gnomAD: n/a

      Individual CaseInfo LVH AutosomalDominant CA389051586 NoPreviousTesting DiseaseAssertion inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    ahajournals.org/doi/full/10.1161/CIRCGENETICS.117.001729