Case: P9, female, 28yo

DiseaseAssertion: VWD2M

FamilyInfo: NA

ParentalGenotype(s): NA

CasePresentingHPOs: HP:0012147, HP:0030129, HP:0030130

(Reduced quantity of VWF, Impaired ristocetin cofactor assay activity, Impaired von Willebrand factor collagen binding activity)

CaseHPOFreeText: bleeding score = 7; VWF:Ag (%) = 35, VWF:RCo(%) = 24, VWF:RCo/VWF:Ag ratio = 0.69, VWF:CIIIB (%) = 11, VWF:CIIIB/VWF:Ag ratio = 0.31, VWF:CVIB (%) = 19.2, VWF:CVIB/VWF:Ag ratio = 0.54

CaseNOTHPOs: HP:0030132

(Absence of large von Willebrand factor multimers)

CaseNOTHPOFreeText: NA

CasePreviousTesting: NA

GenotypingMethod: NGS

PreviouslyPublished: NA

Gene: VWF

Variant: c.5140G>C (p.Ala1714Pro)

HGVS: NM_000552.3:c.5140G>C (p.Ala1714Pro)

ClinVarID: NA

CAID: CA383496428; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383496428

gnomAD: absent