ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.1794+5C>T (rs200095915)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081381 SCV000289269 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567114 SCV000671387 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-11 criteria provided, single submitter clinical testing Insufficient evidence
GeneDx RCV000602051 SCV000729731 likely benign not specified 2018-01-25 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000227919 SCV001134686 benign not provided 2019-02-26 criteria provided, single submitter clinical testing

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