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    Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
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    1. ClingenBaseline 23 Oct 2026

      Supplementary Data: S2 Table

      Case 8: Spanish, 81yo, 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.3056C>A (p.Thr1019Asn)

      ClinVar: 195720, https://www.ncbi.nlm.nih.gov/clinvar/variation/195720/

      gnomAD: 0.00001591, https://gnomad.broadinstitute.org/variant/14-23892799-G-T

      Individual CaseInfo HCM FullPreviousTesting AdditionalPreviousTesting NoInheritanceAssertion ClinVarID:195720 SupplementalData inferred_gene_hgnc:13830 inferred_gene_source:ClinVar Cardiomyopathy Annotation
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