ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.4196G>A (rs1800382)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000075 SCV000884884 benign none provided 2019-10-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000756907 SCV000888698 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851940 SCV000899341 likely pathogenic Abnormality of coagulation 2019-02-01 criteria provided, single submitter research
OMIM RCV000000317 SCV000020461 benign VON WILLEBRAND FACTOR POLYMORPHISM 2010-05-01 no assertion criteria provided literature only
Laboratory of Genetic Engineering, National Research Center for Hematology RCV001270629 SCV001449495 likely benign von Willebrand disease type 1 2020-01-01 no assertion criteria provided research

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