ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2804G>A (p.Ter935=) (rs876658335)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220489 SCV000273425 likely benign Hereditary cancer-predisposing syndrome 2015-01-16 criteria provided, single submitter clinical testing
Invitae RCV000231846 SCV000284164 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000430333 SCV000513667 likely benign not specified 2016-08-01 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 RCV000220489 SCV000690100 likely benign Hereditary cancer-predisposing syndrome 2017-06-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000231846 SCV001134359 likely benign not provided 2019-03-17 criteria provided, single submitter clinical testing

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