ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.2451T>A (p.His817Gln) (rs57950734)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000086615 SCV000605586 benign not provided 2017-12-06 criteria provided, single submitter clinical testing
Academic Unit of Haematology, University of Sheffield RCV000086615 SCV000118819 not provided not provided no assertion provided not provided
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000086615 SCV000609728 benign not provided 2017-03-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310668 SCV000380624 likely benign von Willebrand disorder 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000247162 SCV000305291 benign not specified criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000247162 SCV000602294 likely benign not specified 2017-04-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000086615 SCV000888687 benign not provided 2018-05-11 criteria provided, single submitter clinical testing

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