ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.2772C>G (p.Leu924=) (rs117473319)

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
PreventionGenetics,PreventionGenetics RCV000245248 SCV000312269 likely benign not specified criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625375 SCV000745138 likely benign Nephronophthisis 15 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000625375 SCV000772131 benign Nephronophthisis 15 2019-12-31 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.