ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3852G>A (p.Thr1284=) (rs2229018)

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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 RCV000165384 SCV000216111 likely benign Hereditary cancer-predisposing syndrome 2014-11-11 criteria provided, single submitter clinical testing
Color RCV000165384 SCV000690415 likely benign Hereditary cancer-predisposing syndrome 2016-11-28 criteria provided, single submitter clinical testing
Counsyl RCV000663078 SCV000786155 likely benign Hereditary nonpolyposis colorectal cancer type 5 2018-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000418187 SCV000513704 benign not specified 2015-08-27 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.
Integrated Genetics/Laboratory Corporation of America RCV000586300 SCV000695895 uncertain significance not provided 2016-01-06 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074945 SCV000108159 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence
Invitae RCV000524192 SCV000261299 likely benign Hereditary nonpolyposis colon cancer 2017-09-12 criteria provided, single submitter clinical testing

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