ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.4941C>T (p.Phe1647=) (rs145639967)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566697 SCV000671353 likely benign Hereditary cancer-predisposing syndrome 2015-06-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000432624 SCV000521428 likely benign not specified 2017-10-09 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.
Invitae RCV000458844 SCV000556293 benign Colorectal cancer, susceptibility to, 12 2017-12-20 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679640 SCV000806792 likely benign not provided 2017-07-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679640 SCV000889762 benign not provided 2018-03-21 criteria provided, single submitter clinical testing

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