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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 113: Spanish, 40yo, 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, Next-gen sequencing panels of 55 or 78 genes

      Variant: NM_000257.3:c.530C>G

      CAID: CA389052613, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389052613

      gnomAD: n/a

      MultipleGeneVariants:

      (1) TNNT2 Variant:

      Variant: NM_001001430.2:c.101C>T

      CAID: CA088874, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA088874

      gnomAD: 0.00001193, https://gnomad.broadinstitute.org/variant/1-201337322-G-A

      Individual CaseInfo HCM FullPreviousTesting AdditionalPreviousTesting NoInheritanceAssertion CA389052613 MultipleGeneVariants SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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