ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.3692A>C (p.Asn1231Thr) (rs61749368)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242240 SCV000305307 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000242240 SCV000730547 likely benign not specified 2017-01-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851980 SCV000899692 uncertain significance Abnormality of coagulation 2019-02-01 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000086671 SCV001148588 likely benign not provided 2019-11-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000086671 SCV001470123 likely benign not provided 2020-04-30 criteria provided, single submitter clinical testing
Academic Unit of Haematology, University of Sheffield RCV000086671 SCV000118875 not provided not provided no assertion provided not provided

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