ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.774C>G (p.Thr258=) (rs149345392)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086182 SCV000289491 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000422068 SCV000529018 likely benign not specified 2017-03-09 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.
Ambry Genetics RCV000565492 SCV000671467 likely benign Hereditary cancer-predisposing syndrome 2015-10-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000232333 SCV001134763 benign not provided 2019-03-21 criteria provided, single submitter clinical testing

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