1 Matching Annotations
  1. Last 7 days
  2. journals.plos.org journals.plos.org
    Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
    1
    1. ClingenBaseline 22 Oct 2026

      Supplementary Data: S2 Table

      Case 3: Spanish, 17yo, Male

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      CasePreviousTesting: Full Testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), additional testing listed in supplementary data table S1

      CaseGenotypingMethod: genomic DNA obtained from blood or saliva, PCR, Sanger Sequencing

      Variant: NM_000257.3(MYH7):c.1207C>G (p.Arg403Gly)

      ClinVar: 505562, https://www.ncbi.nlm.nih.gov/clinvar/variation/505562/

      gnomAD: n/a

      Individual CaseInfo HCM FullPreviousTesting AdditionalPreviousTesting NoInheritanceAssertion ClinVarID:505562 SupplementalData inferred_gene_hgnc:23216 inferred_gene_source:ClinVar Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    journals.plos.org/plosone/article