ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1387-5T>C (rs757458333)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574158 SCV000669728 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000604134 SCV000718479 likely benign not specified 2017-04-13 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 RCV000229877 SCV000284109 likely benign Lynch syndrome 2016-03-06 criteria provided, single submitter clinical testing

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