ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.6714C>T (p.Cys2238=) (rs200082120)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086053 SCV000261857 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000439664 SCV000521755 likely benign not specified 2017-11-21 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.
Ambry Genetics RCV000562854 SCV000671229 likely benign Hereditary cancer-predisposing syndrome 2016-01-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000205352 SCV001134753 benign not provided 2018-10-17 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.