ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.156T>C (p.Asn52=)

gnomAD frequency: 0.00006  dbSNP: rs143046320
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000945688 SCV001091731 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2025-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271891 SCV001453385 uncertain significance Leber congenital amaurosis 2020-02-13 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.