ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1131A>G (p.Gln377=) (rs181852377)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164645 SCV000215309 likely benign Hereditary cancer-predisposing syndrome 2014-05-27 criteria provided, single submitter clinical testing
Invitae RCV000205248 SCV000259807 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000442945 SCV000513657 benign not specified 2015-07-14 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.
Color RCV000164645 SCV000684907 likely benign Hereditary cancer-predisposing syndrome 2016-12-02 criteria provided, single submitter clinical testing

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