Submissions for variant NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr)

gnomAD frequency: 0.00001  dbSNP: rs61751298

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	RCV002225289	SCV002505353	uncertain significance	von Willebrand disease type 1		criteria provided, single submitter	research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	RCV001787076	SCV002505354	uncertain significance	von Willebrand disease type 3		criteria provided, single submitter	clinical testing
Laboratory of Hematology, Radboud University Medical Center	RCV002225289	SCV002546253	pathogenic	von Willebrand disease type 1	2021-07-01	criteria provided, single submitter	research
Laboratory of Hematology, Radboud University Medical Center	RCV001787076	SCV002546254	pathogenic	von Willebrand disease type 3	2021-07-01	criteria provided, single submitter	research
Academic Unit of Haematology, University of Sheffield	RCV000086894	SCV000119100	not provided	not provided		no assertion provided	not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	RCV001787076	SCV001572749	uncertain significance	von Willebrand disease type 3	2020-11-01	no assertion criteria provided	clinical testing	ClinGen Pathogenicity Calculator