ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.5170+10C>T (rs61750601)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000086828 SCV000889915 likely benign not provided 2019-08-19 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000086828 SCV001148578 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001110727 SCV001268200 uncertain significance von Willebrand disorder 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Academic Unit of Haematology, University of Sheffield RCV000086828 SCV000119034 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001375763 SCV001572704 likely benign Von Willebrand disease, recessive form 2020-11-01 no assertion criteria provided clinical testing ClinGen Pathogenicity Calculator

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