ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2667C>G (p.Ser889=) (rs561680100)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420082 SCV000513666 likely benign not specified 2017-05-05 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.
Invitae RCV000556247 SCV000625404 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566069 SCV000662245 likely benign Hereditary cancer-predisposing syndrome 2017-05-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000566069 SCV000685069 likely benign Hereditary cancer-predisposing syndrome 2016-09-23 criteria provided, single submitter clinical testing

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