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    Ebstein anomaly associated with left ventricular noncompaction: An autosomal dominant condition that can be caused by mutations in MYH7
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    1. ClingenBaseline 25 Oct 2026
      Family 1 reported by Postma et al. [2011]. The MYH7 mutation Tyr283Asp is segregating with LVNC, Ebstein anomaly and other congenital heart disease (CHD).

      CaseIII-3: female

      DiseaseAssertion: LVNC, Ebstin anomaly, congenital heart disease

      FamilyInfo: all mutation carriers have LVNC, with some having Ebstein anomaly and/or other CHD

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod:

      Variant: NM_000257.4:c.847T>G

      ClinVar: 66081

      CAID: CA016893

      gnomAD:

      FamilyInfo CaseInfo Individual CAID:CA016893 ClinVar:66081 DiseaseEntity:LVNC inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/ajmg.c.31365