ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.519C>T (p.Ala173=) (rs187690610)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079985 SCV000556272 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568224 SCV000671224 likely benign Hereditary cancer-predisposing syndrome 2019-05-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;Subpopulation frequency in support of benign classification
GeneDx RCV000507065 SCV000732265 likely benign not specified 2017-09-29 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.
PreventionGenetics,PreventionGenetics RCV000679645 SCV000806799 likely benign not provided 2017-02-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679645 SCV000888546 benign not provided 2018-11-07 criteria provided, single submitter clinical testing

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