ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.1137C>T (p.His379=) (rs376333939)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419613 SCV000529719 likely benign not specified 2017-11-14 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 RCV001086891 SCV000653029 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570117 SCV000671502 likely benign Hereditary cancer-predisposing syndrome 2015-10-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000555338 SCV001134675 likely benign not provided 2019-05-15 criteria provided, single submitter clinical testing

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