ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1311G>T (p.Val437=) (rs730881781)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160645 SCV000211247 benign not specified 2014-07-30 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.
Counsyl RCV000412435 SCV000488392 likely benign Lynch syndrome I 2016-03-15 criteria provided, single submitter clinical testing
Invitae RCV000547785 SCV000625248 likely benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000774566 SCV000908301 likely benign Hereditary cancer-predisposing syndrome 2018-05-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000160645 SCV000919701 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774566 SCV001171172 likely benign Hereditary cancer-predisposing syndrome 2015-12-02 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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