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    Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
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    1. ClingenBaseline 22 Oct 2026

      Supplementary Data: S2 Table

      Case 157: Spanish, 71yo, Female

      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, Next-gen sequencing panels of 55 or 78 genes

      Variant: NM_000257.3(MYH7):c.5342G>A (p.Arg1781His)

      ClinVar: 43064, https://www.ncbi.nlm.nih.gov/clinvar/variation/43064/

      gnomAD: 0.00001767, https://gnomad.broadinstitute.org/variant/14-23884421-C-T

      Individual CaseInfo HCM FullPreviousTesting AdditionalPreviousTesting NoInheritanceAssertion ClinVarID:43064 SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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