ClinVar Miner

Submissions for variant NM_004076.5(CRYBB3):c.6G>A (p.Ala2=)

gnomAD frequency: 0.00119  dbSNP: rs144393956
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 RCV000872943 SCV001014846 benign Cataract 22 multiple types 2022-12-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002510997 SCV002821111 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing CRYBB3: BP4, BP7

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.