ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.2106G>T (p.Gly702=) (rs5744801)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572802 SCV000671308 likely benign Hereditary cancer-predisposing syndrome 2015-08-12 criteria provided, single submitter clinical testing
GeneDx RCV000444253 SCV000521366 likely benign not specified 2018-02-02 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 RCV000227190 SCV000289289 benign Colorectal cancer, susceptibility to, 12 2018-01-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000444253 SCV000806740 benign not specified 2017-08-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000444253 SCV000601996 likely benign not specified 2017-03-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759273 SCV000888508 likely benign not provided 2017-03-29 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000572802 SCV000805294 likely benign Hereditary cancer-predisposing syndrome 2018-04-27 no assertion criteria provided clinical testing

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