ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.546C>T (p.His182=) (rs115257501)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083771 SCV000289421 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000434710 SCV000521637 likely benign not specified 2017-07-07 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 RCV000567394 SCV000671373 likely benign Hereditary cancer-predisposing syndrome 2015-09-11 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759305 SCV000888552 benign not provided 2017-12-08 criteria provided, single submitter clinical testing

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