ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.3747G>A (p.Val1249=) (rs80290414)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567729 SCV000671347 likely benign Hereditary cancer-predisposing syndrome 2015-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000425953 SCV000524201 likely benign not specified 2017-12-21 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 RCV000228096 SCV000289341 benign Colorectal cancer, susceptibility to, 12 2018-01-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000425953 SCV000602033 likely benign not specified 2017-02-17 criteria provided, single submitter clinical testing

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