Case: T3-5, female, 19yo

DiseaseAssertion: VWD3

FamilyInfo:

ParentalGenotype(s):

CasePresentingHPOs:

CaseHPOFreeText: Blood type: O+, bleeding score = 12, VWF:Ag (IU/mL) = 0.01; VWF:RCo (IU/mL) = 0.08; FVIII:C (IU/mL) = 0.04

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting:

GenotypingMethod: qRT-PCR

PreviouslyPublished:

Gene: VWF

Variant: c.1729+3A>C

HGVS: NM_000552.5(VWF):c.1729+3A>C

ClinVarID: 1065249; https://www.ncbi.nlm.nih.gov/clinvar/variation/1065249/?oq=c.1729+3A%3EC&m=NM_000552.5(VWF):c.1729%203A%3EC

CAID: n/a

gnomAD: absent