Case 15: 48 year old female, study ID UZ097 in supplemental table

DiseaseAssertion: type 2 NOS VWD presequencing, type 2B VWD postsequencing

FamilyInfo:

ParentalGenotype(s):

CasePresentingHPOs:

CaseHPOFreeRext: vWF:Ag (%) = 34.3; vWF:GPIbR (%) = 17.2; Act/Ag ratio = 0.50; FVIII:C (%) = 44.5; Platelets (x10^9/L) = 344

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: The Thrombosis-Hemostasis gene panel test used whole exome sequencing and included 99 diagnostic-grade genes (table 1 in PMID:36696193)

GenotypingMethod: WES using the coagulation subpanel of the UZ Leuven Thrombosis-Haemostasis gene panel test. WES was performed on the sequencing platform NovaSeq 6000 (Illumina), and Alissa Interpret software v5.2-5.4 (Agilent) was used for variant interpretation. Assessment of copy number variation was validated within the bioinformatics pipeline. The American College of Medical Genetics and Genomics and the Association of Molecular Pathology guidelines were used to classify variants as pathogenic (P), likely pathogenic (LP), a variant of uncertain significance (VUS), or (likely) benign (LB, B) variants

PreviouslyPublished:

Gene: VWF

Variant: c.3842T>C p.Leu1281Pro

HGVS:

ClinVarID: 627206

CAID:

gnomAD: absent