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  2. www.sciencedirect.com www.sciencedirect.com
    Value of Genetic Testing for the Prediction of Long-Term Outcome in Patients With Hypertrophic Cardiomyopathy
    1
    1. ClingenBaseline 23 Oct 2026
      in Baseline Annotations

      Supplementary Data table 1

      Variant noted to be present in 2 individuals

      Variant: NM_000257.3(MYH7):c.2080C>T (p.Arg694Cys)

      ClinVar: 177627, https://www.ncbi.nlm.nih.gov/clinvar/variation/177627/

      gnomAD: 0.00001989, https://gnomad.broadinstitute.org/variant/14-23895255-G-A

      ClinVarID:177627 SupplementalData inferred_gene_hgnc:2186 inferred_gene_source:ClinVar Cardiomyopathy Annotation
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    Tags

    • SupplementalData
    • inferred_gene_source:ClinVar
    • inferred_gene_hgnc:2186
    • Cardiomyopathy Annotation
    • ClinVarID:177627

    Annotators

    • ClingenBaseline

    URL

    sciencedirect.com/science/article/pii/S0002914916311092
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