ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.776G>A (p.Arg259His) (rs61732929)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205994 SCV000262257 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000205994 SCV000489134 likely benign Colorectal cancer, susceptibility to, 12 2016-08-23 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000442441 SCV000510795 likely benign not provided 2017-01-06 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000442749 SCV000518415 likely benign not specified 2017-11-15 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.
Genetic Services Laboratory,University of Chicago RCV000442749 SCV000596497 benign not specified 2019-04-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000442749 SCV000602099 likely benign not specified 2017-05-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568305 SCV000671221 likely benign Hereditary cancer-predisposing syndrome 2015-06-19 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
PreventionGenetics,PreventionGenetics RCV000442749 SCV000806854 benign not specified 2017-01-30 criteria provided, single submitter clinical testing
Mendelics RCV000205994 SCV001138901 likely benign Colorectal cancer, susceptibility to, 12 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000442441 SCV001148910 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000568305 SCV000788194 likely benign Hereditary cancer-predisposing syndrome 2017-11-17 no assertion criteria provided 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.