ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.3411G>A (p.Leu1137=) (rs368920055)

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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 RCV000571676 SCV000671299 likely benign Hereditary cancer-predisposing syndrome 2015-11-25 criteria provided, single submitter clinical testing
GeneDx RCV000433939 SCV000521508 likely benign not specified 2017-12-21 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 RCV000551396 SCV000653206 likely benign Colorectal cancer, susceptibility to, 12 2017-12-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759288 SCV000888527 likely benign not provided 2017-08-02 criteria provided, single submitter clinical testing

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