ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.671G>T (p.Gly224Val)

gnomAD frequency: 0.00006  dbSNP: rs201509408
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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490441 SCV000267305 uncertain significance Branchiootorenal syndrome 1 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000490441 SCV001047580 likely benign Branchiootorenal syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144163 SCV003832302 uncertain significance not provided 2019-11-21 criteria provided, single submitter 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.