Case#: 13010, Age 37, Female, Blood Type O+ (Table S3)

Disease Assertion: VWD1

FamilyInfo: The patient is one of two members of Family#1308. Patient 13011 has one of the same exonic variant but has one different exonic variant (c.546G>A).

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding Score 18, VWF:Ag:16, VWF:RCo:15.1, FVIII:C:45, VWF:CB14

CaseNotHPOs: N/A

CaseNotHPOFreeText:N/A

Protein Expression: N/A

CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations

Gene: VWF

Variant: NM_000552.4:c.1472G>C(p.Arg491Pro) and NM_000552.4:c.546G>A (p.=)

ClinVar: 256684 ClinVar

CAID: CA383500718 and CA6403759 [CAID1] (http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383500718)

CAID2

gnomAD: MAF of 0.002398 (85/35440 alleles) in the Latino population (CA6403759).

gnomAD