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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls
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    1. ClingenBaseline 23 Oct 2026

      Supplemental data table e-1

      Case: MYH7 Case 2

      InheritancePattern: autosomal recessive

      DiseaseEntity: n/a

      PreviouslyPublished: PMID: 27282841

      PreviousTesting: Not specified

      CaseGenotypingMethod: paper notes single gene, NGS, and WES were used, but does not specify which method was used for each individual family

      Variant: NM_000257.4(MYH7):c.5459G>A (p.Arg1820Gln)

      ClinVar: 419278, https://www.ncbi.nlm.nih.gov/clinvar/variation/419278/

      gnomAD: 0.00001989, https://gnomad.broadinstitute.org/variant/14-23884304-C-T

      SupplementalData CaseInfo PreviouslyPublished InheritancePattern:AutosomalDominant DiseaseEntity:NoDiseaseAssertion Mutation:Germline PreviousTesting:None ClinVarID:419278 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6563518/