Case: P2, male, 32yo

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 (%) = 32, VWF:RCo(%) = 19, VWF:RCo/VWF:Ag ratio = 0.59, VWF:CIIIB (%) = 35, VWF:CIIIB/VWF:Ag ratio = 1.09, VWF:CVIB (%) = 32, VWF:CVIB/VWF:Ag ratio = 1.00

CaseNOTHPOs: HP:0030132

(Absence of large von Willebrand factor multimers)

CaseNOTHPOFreeText: NA

CasePreviousTesting: NA

GenotypingMethod: NGS

PreviouslyPublished: If applicable.

Gene: VWF

Variant: c.4117G>T (p.Asp1373Tyr)

HGVS: NM_000552.3:c.4117G>T (p.Asp1373Tyr)

ClinVarID: NA

CAID: CA383504503; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383504503

gnomAD: MAF = 0.00002891 (1/34588 alleles) in Latino/AdMixed American population; https://gnomad.broadinstitute.org/variant/12-6128467-C-A