Submissions for variant NM_000552.5(VWF):c.7239T>C (p.Thr2413=)

gnomAD frequency: 0.84456  dbSNP: rs216867

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242710	SCV000305333	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000362780	SCV000380562	likely benign	Hereditary von Willebrand disease	2016-06-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244052	SCV002514539	benign	von Willebrand disease type 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244053	SCV002514540	benign	von Willebrand disease type 3	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244054	SCV002514541	benign	von Willebrand disease type 2	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004703523	SCV005213633	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000242710	SCV001744361	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000242710	SCV001959373	benign	not specified		no assertion criteria provided	clinical testing