ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.4047G>A (p.Ala1349=) (rs201746181)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084254 SCV000289362 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000424397 SCV000529007 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 RCV000570174 SCV000671333 likely benign Hereditary cancer-predisposing syndrome 2015-06-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679628 SCV000806770 likely benign not provided 2017-12-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679628 SCV000888529 benign not provided 2017-07-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000424397 SCV001361241 benign not specified 2019-09-05 criteria provided, single submitter clinical testing

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