Case#: 30006, Age 70, Female, Blood Type A- (Table S3)

Disease Assertion: VWD 1

FamilyInfo: The patient is the only member of Family#3005.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding Score 17, VWF:Ag: 24, VWF:RCo: 29.4, FVIII:C:30, VWF:CB: 28

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.5336G>T(p.Arg1779Leu)

ClinVar: N/A

CAID: CA383495656 CAID

gnomAD: MAF of 0.00002891 ( 1/ 34592 alleles) in the Latino population. gnomAD

Case#: 30035, Age 55, Female, Blood Type A+ (Table S3)

Disease Assertion: VWD 1

FamilyInfo: The patient is the only member of Family# 3012.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: VWF:Ag:25, VWF:RCo:16, FVIII:C:38, VWF:CB: 19

CaseNotHPOs: N/A

CaseNotHPOFreeText: Bleeding Score 1

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.5336G>T (p.Arg1779Leu)

ClinVar: N/A

CAID:CA383495656 CAID

gnomAD: MAF of 0.00002891 (1/ 34592 alleles) in the Latino population. gnomAD

Case#: 30037, Age 69, Male, Blood Type O+ (Table S3)

Disease Assertion: VWD 1

FamilyInfo: The patient is the only member of Family# 3013

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: VWF:Ag: 20, VWF:RCo: 17, FVIII:C: 25, VWF:CB: 13

CaseNotHPOs: N/A

CaseNotHPOFreeText: Bleeding Score 1

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.5336G>T (p.Arg1779Leu)

ClinVar: N/A

CAID: CA383495656 CAID

gnomAD:MAF of 0.00002891 (1/ 34592 alleles) in the Latino population. gnomAD