Case#: p.Y1349C, Female, Age 29, Caucasian

Disease Assertion: VWD2M

FamilyInfo: 5 affected family members with varied bleeding scores (range 4-14)

Parental Genotype: Not listed

CasePresentingHPOs:

CaseHPOFreeText: bleeding score 8, VWF:Rco/VWF:Ag ratio 0.35, VWF:Rco 17 IU/dL, VWF:Ag 49 IU/dL,

CaseNotHPOs:HP:0040240

(Increased Ratio of VWF Propeptide to VWF antigen)

CaseNotHPOFreeText: normal multimer distribution

Protein Expression:

CasePreviousTesting:VWF Sequencing

Gene: VWF

Variant: NM_000552.4:c.4046A>G (p.Tyr1349Cys)

ClinVar: N/A

CAID: CA383505652

CAID

gnomAD: N/A