2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation
    2
    1. ClingenBaseline 24 Oct 2026
      WPW381

      Case#: WPW381

      DiseaseAssertion: WPW, LY non compaction cardiomyopathy

      FamilyInfo: inherited

      CasePresentingHPOs: Wolff-Parkinson-White syndrome, Left ventricular noncompaction cardiomyopathy (HP:0001716, HP:0011664)

      CaseHPOFreeText: 0 ARIC, 0 THou, 8.12e-6 gnomAD, 8.24e-6 Exac, 0 esp6500, 34 CADD_phred, 0 pLI,

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: ECG, exome sequencing, gene analysis, burden analysis,

      Variant: NM_000257.4(MYH7):c.728G>A (p.Arg243His)

      ClinVar: 14126 https://www.ncbi.nlm.nih.gov/clinvar/variation/14126/

      CAID: N/A

      gnomAD: 0.00002891 Latino/Admixed American https://gnomad.broadinstitute.org/variant/14-23894525-C-T

      Individual CaseInfo InheritancePattern:AutosomalDominant FamilyInfo PreviousTesting:Additional Mutation:Germline ClinVarID: 14126 DiseaseEntity:WPW DiseaseEntity:LVNC inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    2. ClingenBaseline 22 Oct 2026
      WPW385

      Case#: WPW385, 13 yrs

      DiseaseAssertion: LYH, WPW, SVT

      FamilyInfo: inherited

      CasePresentingHPOs: Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Left ventricular hypertrophy (HP:0001716, HP:0004755, HP:0001712)

      CaseHPOFreeText: 0 ARIC, 0 THou, 2.03e-5 gnomAD, 3.3e-5 Exac, 7.7e-5 esp6500, 20.5 CADD_phred, 0 pLI,

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: ECG, exome sequencing, gene analysis, burden analysis,

      Variant: NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)

      ClinVar: 42901 https://www.ncbi.nlm.nih.gov/clinvar/variation/42901/

      CAID: N/A

      gnomAD: 0.0001230 African/African American https://gnomad.broadinstitute.org/variant/14-23894525-C-T

      Individual CaseInfo InheritancePattern:AutosomalDominant FamilyInfo DiseaseEntity:LVH Mutation:Germline ClinVarID:42901 PreviousTesting:Additional DiseaseEntity:WPW DiseaseEntity:SVT inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7275694/pdf/nihms-1587067.pdf