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    Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls
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    1. ClingenBaseline 21 Oct 2026

      Supplemental data table e-1

      Case: MYH7 Case 2

      InheritancePattern: autosomal recessive

      DiseaseEntity: n/a

      PreviouslyPublished: PMID: 16858239, PMID: 27247418

      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.2594A>G (p.Lys865Arg)

      ClinVar: 524996, https://www.ncbi.nlm.nih.gov/clinvar/variation/524996/

      gnomAD: 0.000003977, https://gnomad.broadinstitute.org/variant/14-23894063-T-C

      SupplementalData CaseInfo PreviouslyPublished InheritancePattern:AutosomalDominant DiseaseEntity:NoDiseaseAssertion Mutation:Germline PreviousTesting:None ClinVarID:524996 inferred_gene_hgnc:9585 inferred_gene_source:ClinVar Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6563518/