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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Thrombocytopenia Pitfalls: Misdiagnosing Type 2B von Willebrand Disease as Ethylenediaminetetraacetic Acid−Dependent Pseudothrombocytopenia
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    1. ClingenBaseline 22 Oct 2026

      Case#: Kumar_2016_ , M, 9 months (report)

      DiseaseAssertion: VWD type 2B

      FamilyInfo: no family history, de novo assertion but no testing to prove it.

      ParentalGenotype: not reported

      CasePresentingHPOs:

      CaseHPOFreeText: low von Willebrand factor (vWF) antigen (32%) and ristocetin cofactor activity (<8%). loss of high-molecular-weight multimers, bruising, extensive bleeding

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CasePreviousTesting: not reported

      GenotypingMethod: exon 28 sequencing

      Gene: VWF

      Variant:

      HGVS: NM_000552.5(VWF):c.3940G>C, p.V1314L

      ClinVarID: 302

      CAID:

      gnomAD: not reported

      MultipleGeneVariants:

      DiseaseEntity:VWD2B InheritancePattern:AutosomalDominant Zygosity:Heterozygous Mutation:Missense ClinVarID:302 inferred_gene_hgnc:12726 inferred_gene_source:RefSeq ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/27215777/