Submissions for variant NM_000552.5(VWF):c.1173A>T (p.Thr391=)

gnomAD frequency: 0.23172  dbSNP: rs1800375

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000254073	SCV000305278	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000297260	SCV000380647	likely benign	Hereditary von Willebrand disease	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812678	SCV000605575	benign	not provided	2020-11-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243937	SCV002514705	benign	von Willebrand disease type 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243938	SCV002514706	benign	von Willebrand disease type 3	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243939	SCV002514707	benign	von Willebrand disease type 2	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001812678	SCV005213682	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000254073	SCV001740263	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000254073	SCV001960059	benign	not specified		no assertion criteria provided	clinical testing