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    Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies
    1
    1. ClingenBaseline 21 Oct 2026
      CM007

      CaseCM007

      DiseaseAssertion: DCM

      GenotypingMethod: NGS

      MultipleGeneVariants:

      VariantMYH7: NM_000257.4:c.2645A>G

      ClinVar: not found

      CAID: CA389047904

      gnomAD: not found

      VariantRBM20: NM_001134363.3:c.2062C>T

      ClinVar: 202065

      CAID: CA335555

      gnomAD: https://gnomad.broadinstitute.org/variant/10-112572217-C-T?dataset=gnomad_r2_1

      0.00006494 European (non Finnish)

      DiseaseEntity:DCM CaseInfo CAID:CA389047904 MultipleGeneVariants PreviousTesting:Partial UnregisteredVariant InheritancePattern:AutosomalDominant inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    sciencedirect.com/science/article/pii/S0890850815000432