ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys)

gnomAD frequency: 0.00122  dbSNP: rs151092557
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878361 SCV001021257 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501354 SCV002808417 likely benign Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454925 SCV004180099 likely benign Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454926 SCV004180100 likely benign Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454924 SCV004180101 likely benign Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920470 SCV004731060 likely benign CRB1-related condition 2023-04-17 criteria provided, single submitter 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).
Natera, Inc. RCV001271903 SCV001453397 uncertain significance Leber congenital amaurosis 2020-01-07 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.