ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.2089C>T (p.Pro697Ser) (rs5744800)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226732 SCV000289286 benign Colorectal cancer, susceptibility to, 12 2018-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000424622 SCV000521330 benign not specified 2018-01-09 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 RCV000424622 SCV000601994 likely benign not specified 2017-03-21 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514900 SCV000610570 likely benign not provided 2017-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569482 SCV000671230 likely benign Hereditary cancer-predisposing syndrome 2015-06-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
PreventionGenetics,PreventionGenetics RCV000424622 SCV000806738 benign not specified 2017-09-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000514900 SCV000888506 benign not provided 2017-12-08 criteria provided, single submitter clinical testing

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