ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.748+6A>T

gnomAD frequency: 0.00096  dbSNP: rs373742788
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
Invitae RCV000912955 SCV001058084 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075554 SCV001241180 uncertain significance Retinal dystrophy 2018-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832059 SCV002076700 likely benign Retinitis pigmentosa 25 2020-10-14 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.