ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.5478G>T (p.Arg1826=) (rs537648186)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573268 SCV000671245 likely benign Hereditary cancer-predisposing syndrome 2015-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000417656 SCV000530695 likely benign not specified 2017-12-27 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.
Invitae RCV000230744 SCV000289422 benign Colorectal cancer, susceptibility to, 12 2017-10-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000417656 SCV000806804 benign not specified 2017-08-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000417656 SCV000602067 likely benign not specified 2017-01-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759307 SCV000888554 likely benign not provided 2017-01-17 criteria provided, single submitter clinical testing

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