ClinVar Miner

Submissions for variant NM_004076.5(CRYBB3):c.337C>G (p.His113Asp)

gnomAD frequency: 0.58489  dbSNP: rs9608378
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250899 SCV000309966 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000318939 SCV000437588 benign Congenital nuclear cataract 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000840122 SCV000982039 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.
Invitae RCV001520886 SCV001730099 benign Cataract 22 multiple types 2024-01-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520886 SCV001876345 benign Cataract 22 multiple types 2021-07-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000250899 SCV001743184 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000250899 SCV001951230 benign not specified 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.