ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3936T>C (p.Val1312=) (rs61753796)

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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 RCV000220331 SCV000278486 likely benign Hereditary cancer-predisposing syndrome 2015-09-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000220331 SCV000908437 likely benign Hereditary cancer-predisposing syndrome 2018-05-08 criteria provided, single submitter clinical testing
Counsyl RCV000662853 SCV000785723 likely benign Hereditary nonpolyposis colorectal cancer type 5 2017-11-08 criteria provided, single submitter clinical testing
GeneDx RCV000215657 SCV000279323 likely benign not specified 2018-02-20 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.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074952 SCV000108167 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence
Invitae RCV000524195 SCV000561513 likely benign Hereditary nonpolyposis colon cancer 2017-10-06 criteria provided, single submitter clinical testing
Mendelics RCV000074952 SCV000837925 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing

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