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    Left Ventricular Noncompaction and Congenital Heart Disease Increases the Risk of Congestive Heart Failure
    1
    1. ClingenBaseline 21 Oct 2026
      24

      Case#: 24

      DiseaseAssertion: LVNC

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: 5.9 Fathmm, 0 sift, 0.984 polyphen2, 0 GVGD, mutation taster 1, -4.96 provean, -6.07 CADD

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: physical examination, ECG, variant screening and classification, genic collapsing test, group statistical analysis

      Variant: NM_000257.4(MYH7):c.689T>C (p.Phe230Ser)

      ClinVar: 263543 https://www.ncbi.nlm.nih.gov/clinvar/variation/263543/

      CAID: N/A

      gnomAD: absent

      Individual CaseInfo inheritancePattern:NoInheritanceAssertion DiseaseEntity:LVNC PreviousTesting:Partial PreviousTesting:Additional Mutation:Germline ClinVarID:263543 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7141335/