2 Matching Annotations
  1. Last 7 days
  2. journals.plos.org journals.plos.org
    Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
    2
    1. ClingenBaseline 24 Oct 2026

      Supplementary Data: S2 Table

      Case 233: Spanish, 57yo, 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.2312G>C

      CAID: CA032230, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA032230

      gnomAD: 0.000003977, https://gnomad.broadinstitute.org/variant/14-23894602-C-G

      MultipleGeneVariants:

      (1) TTN Variant:

      Variant: NM_133378.4:c.89954C>T

      CAID: CA1986510, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_133378.4%3Ac.89954C%3ET

      gnomAD: 0.00001430, https://gnomad.broadinstitute.org/variant/2-179406146-G-A

      Individual CaseInfo HCM FullPreviousTesting AdditionalPreviousTesting NoInheritanceAssertion CA032230 MultipleGeneVariants SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
    2. ClingenBaseline 24 Oct 2026

      Supplementary Data: S2 Table

      Case 234: Spanish, 50yo, 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.2312G>C

      CAID: CA032230, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA032230

      gnomAD: 0.000003977, https://gnomad.broadinstitute.org/variant/14-23894602-C-G

      Individual CaseInfo HCM FullPreviousTesting AdditionalPreviousTesting NoInheritanceAssertion CA032230 SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    journals.plos.org/plosone/article