Case: T1-4, male, 64yo

DiseaseAssertion: VWD1

FamilyInfo:

ParentalGenotype(s):

CasePresentingHPOs:

CaseHPOFreeText: Blood type: unknown, bleeding score = 12, VWF:Ag (IU/mL) = 0.44; VWF:RCo (IU/mL) = 0.44; FVIII:C (IU/mL) = 0.75

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting:

GenotypingMethod: qRT-PCR

PreviouslyPublished:

Gene: VWF

Variant: c.6599-20A>T

HGVS: NM_000552.5(VWF):c.6599-20A>T

ClinVarID: 100444; https://www.ncbi.nlm.nih.gov/clinvar/variation/100444/?oq=c.6599-20A%3ET&m=NM_000552.5(VWF):c.6599-20A%3ET

CAID:

gnomAD: MAF = 0.0002795 (other population)