ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2500G>A (p.Ala834Thr) (rs63750757)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076488 SCV000107517 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability 0.001-0.049
Ambry Genetics RCV000131725 SCV000186765 likely benign Hereditary cancer-predisposing syndrome 2018-11-08 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);Other data supporting benign classification;Intact protein function observed in appropriate functional assay(s)
GeneDx RCV000212620 SCV000211254 likely benign not specified 2017-10-31 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.
Invitae RCV000679306 SCV000253156 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Color RCV000131725 SCV000537488 likely benign Hereditary cancer-predisposing syndrome 2015-07-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679306 SCV000601467 likely benign not provided 2018-10-16 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659884 SCV000781776 uncertain significance Lynch syndrome I 2016-11-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679306 SCV000806030 likely benign not provided 2017-10-26 criteria provided, single submitter clinical testing

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