ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5776C>A (p.Arg1926=)

gnomAD frequency: 0.00003  dbSNP: rs561598805
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000875343 SCV001017653 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-10-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272019 SCV001453647 uncertain significance Leber congenital amaurosis 2020-04-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004530832 SCV004756517 likely benign CEP290-related disorder 2024-07-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.