ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.624G>A (p.Gln208=)

gnomAD frequency: 0.00114  dbSNP: rs150247275
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000086144 SCV000231060 uncertain significance not provided 2015-03-10 criteria provided, single submitter clinical testing
Invitae RCV000086144 SCV001721204 benign not provided 2024-01-14 criteria provided, single submitter clinical testing
Retina International RCV000086144 SCV000118288 not provided not provided no assertion provided not provided
Clinical Genetics, Academic Medical Center RCV001705815 SCV001926121 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000086144 SCV001975722 likely benign not provided 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.