Case: Patient ID 051 (green color code), 11 year old Black female, not Hispanic

DiseaseAssertion: Type 3 Von Willebrand Disease

CasePresentingHPOs: HP:6000676

(Anti-von Willebrand factor antibody positivity)

CaseHPOFreeRext: ISTH-BAT bleeding score of 32

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: N/A

GenotypingMethod: Full-length VWF exonic Sanger sequencing and array comparative genomic hybridization to detect deletions or duplications

Gene: VWD

HGVS: NM_000552.5

Variant1: p.Trp1144*

ClinVarID / CAID: None

Variant2: p.Leu1281Cysfs*16

CAID: CA2575053893

gnomAD: MAF of 1.695E-6 in European (non-Finnish), no homozygotes noted; gnomAD Page