Case: P3, M/36

DiseaseAssertion: VWD2A

FamilyInfo: Positive family history, no details provided.

ParentalGenotype: NA

CaseHPOFreeText: The bleeding score was 4, aPTT was 43 seconds, FVIII:C was 22%, VWF:RCo was not determined, and VWF:Ag was 14 IU/dL. The VWF:RCo/VWF:Ag ratio was not available. RIPA showed a loss of intermediate and high molecular weight multimers, VWF multimer analysis was 2, and platelet count was 265 × 10⁹/L.

CasePreviousTesting: NA

GenotypingMethod: Direct sequencing of all exons, flanking intronic sequences, and the promoter of VWF was performed.

Gene: VWF

Variant: c.3538+1G>A — heterozygous

HGVS: NM_000552.5(VWF):c.3538+1G>A

ClinVar: 100267

CAID: CA228420

gnomAD: absent from gnomad v4.1.0