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
    1
    1. ClingenBaseline 24 Oct 2026

      Supplementary Data: S2 Table

      Case 7: Spanish, 23yo, 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.2596T>C

      CAID: CA389048059, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389048059

      gnomAD: n/a

      Individual CaseInfo HCM FullPreviousTesting AdditionalPreviousTesting NoInheritanceAssertion CA389048059 SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    journals.plos.org/plosone/article
  3. link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
    Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy
    1
    1. ClingenBaseline 21 Oct 2026

      Supplementary Material 4

      Case M-25: Japanese

      DiseaseAssertion: idiopathic cardiomyopathy (HCM and DCM)

      CasePreviousTesting: Clinical evaluation, chest radiography, electrocardiography, echocardiography, cardiac catheterization, full testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1)

      CaseGenotypingMethod: 8 sarcomeric genes amplified from genomic DNA via PCR then screened using bidirectional direct sequencing

      Variant: NM_000257.3:c.2596T>C

      CAID: CA389048059, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389048059

      gnomAD: n/a

      Individual CaseInfo CMP DiseaseAssertion FullPreviousTesting NoInheritanceAssertion CA389048059 SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    link-springer-com.libproxy.lib.unc.edu/article/10.1007/s00380-016-0920-0