ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.3946G>A (p.Val1316Met) (rs61749397)

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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 RCV000507168 SCV000605571 pathogenic not specified 2016-10-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000086715 SCV000888689 pathogenic not provided 2018-04-27 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000678767 SCV000899336 pathogenic von Willebrand disorder 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851771 SCV000899706 pathogenic von Willebrand disease type 2 2019-02-01 criteria provided, single submitter research
OMIM RCV000000314 SCV000020458 pathogenic von Willebrand disease, type 2b 2010-05-01 no assertion criteria provided literature only
Academic Unit of Haematology, University of Sheffield RCV000086715 SCV000118920 not provided not provided no assertion provided not provided
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678767 SCV000804946 pathogenic von Willebrand disorder 2006-01-23 no assertion criteria provided clinical testing

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