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

      Supplementary Data: S2 Table

      Case 178: Spanish, 30yo, 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:c.920C>G

      CAID: CA389051750, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389051750

      gnomAD: n/a

      Individual CaseInfo HCM FullPreviousTesting AdditionalPreviousTesting NoInheritanceAssertion CA389051750 SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
    2. ClingenBaseline 21 Oct 2026

      Supplementary Data: S2 Table

      Case 13: Spanish, 21yo, 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:c.920C>G

      CAID: CA389051750, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389051750

      gnomAD: n/a

      Individual CaseInfo HCM FullPreviousTesting AdditionalPreviousTesting NoInheritanceAssertion CA389051750 SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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