Case: T3-3, male, 27yo

DiseaseAssertion: VWD3

FamilyInfo:

ParentalGenotype(s):

CasePresentingHPOs:

CaseHPOFreeText: Blood type: A+, bleeding score = 29, VWF:Ag (IU/mL) = 0.02; VWF:RCo (IU/mL) = 0.04; FVIII:C (IU/mL) = 0.01

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting:

GenotypingMethod: qRT-PCR

PreviouslyPublished:

Gene: VWF

Variant 1: c.3939G>A (p.Trp1313Ter)

HGVS: NM_000552.5:c.3939G>A (p.Trp1313Ter)

ClinVarID: n/a

CAID: CA383506120; https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383506120

gnomAD: absent

Variant 2: c.5842+1G>C

HGVS: NM_000552.5:c.5842+1G>C

ClinVarID: n/a

CAID: CA383492977; https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383492977

gnomAD: absent