ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.6795C>T (p.Tyr2265=) (rs142222159)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079954 SCV000289483 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000439482 SCV000522777 likely benign not specified 2017-08-27 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 RCV000570521 SCV000671368 likely benign Hereditary cancer-predisposing syndrome 2015-09-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760038 SCV000889788 benign not provided 2018-04-16 criteria provided, single submitter clinical testing

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