ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.6495C>T (p.Arg2165=) (rs114778730)

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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 RCV000575910 SCV000671254 likely benign Hereditary cancer-predisposing syndrome 2015-06-22 criteria provided, single submitter clinical testing
GeneDx RCV000441976 SCV000521140 likely benign not specified 2018-01-16 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 RCV000230995 SCV000289462 benign Colorectal cancer, susceptibility to, 12 2018-01-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679664 SCV000806839 likely benign not provided 2017-04-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679664 SCV000888568 benign not provided 2018-06-26 criteria provided, single submitter clinical testing

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