ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.954T>A (p.Asn318Lys)

gnomAD frequency: 0.15296  dbSNP: rs1800387
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180179 SCV000232571 benign not specified 2014-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000180179 SCV000305342 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385776 SCV000380651 likely benign Hereditary von Willebrand disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001636712 SCV001850551 benign not provided 2021-01-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 24675615)
Genome-Nilou Lab RCV002243868 SCV002514713 benign von Willebrand disease type 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243869 SCV002514714 benign von Willebrand disease type 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243870 SCV002514715 benign von Willebrand disease type 2 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636712 SCV005213683 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000180179 SCV001932452 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000180179 SCV001958874 benign not specified no assertion criteria provided clinical testing

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