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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human Induced Pluripotent Stem Cells
    1
    1. ClingenBaseline 10 Nov 2026
      healthy 46 years old active, athletic, healthy individual

      Case1:Male, 46 years old

      DiseaseAssertion:NR

      FamilyInfo: 3 generations of asymptomatic carriers

      ParentalTesting:NR

      CasePresentingHPOs:NR

      CaseHPOFreeText:

      CaseNotHPOs:HP:0001712

      CaseNotHPOFreeText:Left Ventricular hypertrophy

      CasePreviousTesting:NR

      Genotyping Method: NR

      FunctionalAnalysis:

      Variant: c.170C>A VUS

      ClinVar:43121

      CAID:CA013575

      gnomAD: NR

      AdditionalInfo:

      Variant: c.170C>A VUS Case-individual CAID:CA013575 inferred_gene_hgnc:7584 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC6298866/