ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.4450A>C (p.Ile1484Leu) (rs772734618)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230629 SCV000289379 likely benign Colorectal cancer, susceptibility to, 12 2019-12-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000502970 SCV000596498 uncertain significance not specified 2017-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765056 SCV000896253 uncertain significance Colorectal cancer, susceptibility to, 12; Facial dysmorphism, immunodeficiency, livedo, and short stature 2018-10-31 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.