Case 1: Southern Spanish, unrelated patient to Case 2

DiseaseAssertion: VWD1

FamilyInfo: Patient unrelated to families of Case 2, but same two VWF variants found on the same allele

CasePresentingHPOs4: Not reported

CaseHPOFreeText4: Bleeding score of 4

CaseNotHPOs: Not reported

CaseNotHPOFreeText: Normal multimeric assay, VWF:Ag level at 66%, VWF:RCo at 60 U/mL, FVIIIC at 84 U/dL, VWF:RCo/VWF:Ag ratio of 0.9, PFA-100:Col-EPI/Col-ADP of 277s/124s

CasePreviousTesting: Sequencing of exon 28 of VWF gene in 11 families.

Gene: VWF

Variant: c.3797C>T, c.3835G>A

ClinVarID:314, 100288