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    Left Ventricular Noncompaction and Congenital Heart Disease Increases the Risk of Congestive Heart Failure
    1
    1. ClingenBaseline 24 Oct 2026
      11

      Case#: 11

      DiseaseAssertion: LVNC

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: -5.47 Fathmm, 0 sift, 0.988 polyphen2, GVGD C25, mutation taster 1, -4.54 provean, -4.35 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.2135G>A (p.Arg712His)

      ClinVar: 575575 https://www.ncbi.nlm.nih.gov/clinvar/variation/575575/

      CAID: N/A

      gnomAD: absent

      Individual CaseInfo inheritancePattern:NoInheritanceAssertion DiseaseEntity:LVNC Mutation:Germline ClinVarID:575575 PreviousTesting:Partial PreviousTesting:Additional inferred_gene_hgnc:1925 inferred_gene_source:ClinVar Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7141335/