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    Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies
    1
    1. ClingenBaseline 25 Oct 2026
      CM006

      CaseCM006

      DiseaseAssertion: HCM

      GenotypingMethod: NGS

      MultipleGeneVariants:

      VariantMYH7: NM_000257.4:c.4343A>T

      ClinVar: 432912

      CAID: CA041680

      gnomAD: 0.0001320 European (non Finnish)

      https://gnomad.broadinstitute.org/variant/14-23886722-T-A

      VariantNEXN: NM_144573.3:c.620A>G

      ClinVar: 520305

      CAID: CA918690

      gnomAD: https://gnomad.broadinstitute.org/variant/1-78392229-A-G

      0.00005794 Latino

      DiseaseEntity:HCM CaseInfo CAID:CA041680 ClinVarID:432912 MultipleGeneVariants PreviousTesting:Partial InheritancePattern:AutosomalDominant inferred_gene_hgnc:29557 inferred_gene_source:CAID Cardiomyopathy Annotation
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    sciencedirect.com/science/article/pii/S0890850815000432