ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2397C>T (p.Asn799=)

gnomAD frequency: 0.00006  dbSNP: rs375546482
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 RCV001480522 SCV001684841 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-11 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699552 SCV001917436 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726567 SCV001967320 likely benign not provided 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.