Submissions for variant NM_000552.5(VWF):c.5844C>T (p.Cys1948=)

gnomAD frequency: 0.37406  dbSNP: rs216902

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248699	SCV000305323	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000265769	SCV000380583	likely benign	Hereditary von Willebrand disease	2016-06-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244031	SCV002514566	benign	von Willebrand disease type 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244032	SCV002514567	benign	von Willebrand disease type 3	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244033	SCV002514568	benign	von Willebrand disease type 2	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004703521	SCV005213642	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000248699	SCV001741317	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000248699	SCV001951983	benign	not specified		no assertion criteria provided	clinical testing