ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.1405C>T (p.Leu469=) (rs368303888)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080853 SCV000289255 benign Colorectal cancer, susceptibility to, 12 2019-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000433385 SCV000525759 likely benign not specified 2017-11-17 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 RCV000568434 SCV000671247 likely benign Hereditary cancer-predisposing syndrome 2015-06-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679600 SCV000806721 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679600 SCV000889706 benign not provided 2017-10-16 criteria provided, single submitter clinical testing

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