ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.899C>T (p.Thr300Met)

gnomAD frequency: 0.00003  dbSNP: rs374016332
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
Counsyl RCV000674587 SCV000799949 uncertain significance Enhanced S-cone syndrome; Retinitis pigmentosa 37 2018-05-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392514 SCV004132770 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing NR2E3: PM2, BP4

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.