ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.780C>G (p.Ile260Met)

gnomAD frequency: 0.00001  dbSNP: rs753561422
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
Invitae RCV001238300 SCV001411103 likely benign not provided 2022-07-18 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887945 SCV004706584 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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.