ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2109C>T (p.Tyr703=)

gnomAD frequency: 0.00071  dbSNP: rs377090818
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 RCV000914872 SCV001060060 likely benign not provided 2024-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000914872 SCV004157483 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing EYS: BP4, BP7
Natera, Inc. RCV001277009 SCV001463739 uncertain significance Retinitis pigmentosa 25 2019-11-11 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.