ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1563T>C (p.Tyr521=) (rs63750330)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000126814 SCV000212868 likely benign Hereditary cancer-predisposing syndrome 2014-06-19 criteria provided, single submitter clinical testing
Color RCV000126814 SCV000689996 likely benign Hereditary cancer-predisposing syndrome 2015-08-10 criteria provided, single submitter clinical testing
Counsyl RCV000409514 SCV000489655 likely benign Lynch syndrome I 2016-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000212604 SCV000170340 benign not specified 2014-01-13 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.
Genetic Services Laboratory, University of Chicago RCV000212604 SCV000595829 likely benign not specified 2016-10-20 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076194 SCV000107211 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence
Invitae RCV000524348 SCV000252653 benign Hereditary nonpolyposis colon cancer 2017-12-24 criteria provided, single submitter clinical testing
Mendelics RCV000076194 SCV000837833 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing

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