ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.762T>C (p.Asn254=) (rs587779180)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213494 SCV000274308 likely benign Hereditary cancer-predisposing syndrome 2015-09-28 criteria provided, single submitter clinical testing
Color RCV000213494 SCV000690129 likely benign Hereditary cancer-predisposing syndrome 2016-03-23 criteria provided, single submitter clinical testing
Counsyl RCV000662531 SCV000785101 likely benign Lynch syndrome I 2017-04-18 criteria provided, single submitter clinical testing
GeneDx RCV000433551 SCV000513653 likely benign not specified 2016-09-01 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.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076704 SCV000107739 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence
Invitae RCV000524420 SCV000559207 likely benign Hereditary nonpolyposis colon cancer 2017-11-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759121 SCV000888230 likely benign not provided 2017-12-11 criteria provided, single submitter clinical testing

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