Case: P15, Chinese, female, 52yo

DiseaseAssertion: VWD3

FamilyInfo: NA

ParentalGenotype(s): NA

CasePresentingHPOs: HP:0012147

(Reduced quantity of VWF)

CaseHPOFreeText: type A blood, bleeding score = 15; VWF:Ag (%) = 1.5, VWF:RCo (%) = 1.6, FVIII:C (%) = 7.1, VWF:CB (%) = 1.1, VWFpp (%) = 1.2, VWF:RCo/VWF:Ag = 1.1, VWF:CB/VWF:Ag = 0.7, VWFpp/VWF:Ag = 0.8, FVIII:C/VWF:Ag = 4.7

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: NA

GenotypingMethod: NGS

PreviouslyPublished: NA

Gene: VWF

Variant 1: c.813C>A (p.Tyr271Ter)

HGVS: NM_000552.5:c.813C>A (p.Tyr271Ter)

ClinVarID: NA

CAID: CA383508534; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383508534

gnomAD: absent

Variant 2: c.893dup (p.Met299fs)

HGVS: NM_000552.4(VWF):c.893dup (p.Met299fs)

ClinVarID: 100511; https://www.ncbi.nlm.nih.gov/clinvar/variation/100511/

CAID: NA

gnomAD: absent

Case: T046, F, 16

DiseaseAssertion: VWD type 3

FamilyInfo: n/a

CasePresentingHPOs: n/a

CaseHPOFreeText: Bleeding Score: 21 (Kruskal–Wallis followed by Mann–Whitney U post-hoc testing Post-hoc testing ), VWF:Ag (IU/ml): 0.01, VWF:RCo (IU/ml): 0.04, FVIII:C (IU/ml): 0.02

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a

CasePreviousTesting: n/a

Gene: VWF

Variant:

c.385C>A (p.Leu129Met), Exon 5

c.813C>A (p.Tyr271*), Exon 7

Compound heterozygous

Note: ELISA-based assay for detecting alloantibodies, genomic analysis via sequencing of leukocytes for the VWF gene including exons 1-52 and about 1.5 km of VWF promoter, PCR amplification for variant confirmation, SALSA-MLPAVWF assay evaluation for partial/total gene deletions when sequencing did not reveal pathogenic explanation