ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.4068T>G (p.Leu1356=) (rs377227262)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733952 SCV000862058 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
Invitae RCV000637012 SCV000758460 likely benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2018-01-05 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.