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    Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling
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    1. ClingenBaseline 22 Oct 2026

      CaseMYH7-3: Japan, Asian

      CasePresentingHPOs: HP:0001639, HP:0006685 (Hypertrophic cardiomyopathy, Endomyocardial fibrosis)

      HPOsFreeText: N/A

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo:

      CaseGenotypingMethod: Genomic DNA was extracted from whole blood from each proband. They each had 95 genes associated with DCM, HCM, and other inherited cardiovascular diseases sequenced with a panel, including both the exons and spicing regions. Variants were then filtered for rarity and pathogenicity.

      Variant: NM_000257.3:c.2504A>C (p.Lys835Thr)

      CAID: CA389048271 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000257.3%3Ac.2504A%3EC

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod HCM FullPreviousTesting AdditionalPreviousTesting SupplementalData CA389048271 inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5792481/