ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3934A>G (p.Arg1312Gly)

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
Fulgent Genetics, Fulgent Genetics RCV005003795 SCV005630071 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-02-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733731 SCV005341601 uncertain significance CEP290-related disorder 2024-02-16 no assertion criteria provided clinical testing The CEP290 c.3934A>G variant is predicted to result in the amino acid substitution p.Arg1312Gly. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.