ClinVar Miner

Submissions for variant NM_000496.3(CRYBB2):c.483G>A (p.Gly161=)

gnomAD frequency: 0.24115  dbSNP: rs8140949
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
PreventionGenetics, part of Exact Sciences RCV000242593 SCV000304540 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000835008 SCV000976782 benign not provided 2018-03-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001520888 SCV001730101 benign Cataract 3 multiple types 2024-01-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520888 SCV001876343 benign Cataract 3 multiple types 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000835008 SCV005278530 benign not provided criteria provided, single submitter not provided

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.