ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.6187C>T (p.Pro2063Ser) (rs61750615)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177861 SCV000229811 likely benign not specified 2014-11-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000177861 SCV000305325 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400661 SCV000380580 likely benign von Willebrand disorder 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000177861 SCV000540665 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000086848 SCV000889924 benign not provided 2018-07-12 criteria provided, single submitter clinical testing
Academic Unit of Haematology, University of Sheffield RCV000086848 SCV000119054 not provided not provided no assertion provided not provided

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