ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.1419C>T (p.Tyr473=) (rs369961557)

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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 RCV000567750 SCV000671456 likely benign Hereditary cancer-predisposing syndrome 2015-09-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000440679 SCV000524377 likely benign not specified 2018-02-20 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 RCV000231196 SCV000289256 likely benign Colorectal cancer, susceptibility to, 12 2017-11-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759974 SCV000889707 likely benign not provided 2017-10-07 criteria provided, single submitter clinical testing

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