ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4578G>A (p.Glu1526=)

dbSNP: rs775294433
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865971 SCV001007004 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501253 SCV002800538 likely benign Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-12-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003396506 SCV004135539 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing CEP290: BP4, BP7
Natera, Inc. RCV001279533 SCV001466630 likely benign Leber congenital amaurosis 2020-08-26 no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV003151166 SCV003839347 likely benign not specified 2022-05-06 no assertion criteria provided 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.