ClinVar Miner

Submissions for variant NM_173560.4(RFX6):c.2176C>G (p.Arg726Gly)

gnomAD frequency: 0.00436  dbSNP: rs144648002
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445547 SCV000537030 likely benign Monogenic diabetes 2017-11-10 criteria provided, single submitter research ACMG criteria: PP3 (4 predictors), BP4 (6 predictors), BS2 (42 cases and 33 controls in type2diabetesgenetics.org)=likely benign
Invitae RCV000872438 SCV001014250 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000872438 SCV002043801 likely benign not provided 2022-07-06 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genetic Services Laboratory, University of Chicago RCV001821214 SCV002069797 likely benign not specified 2021-07-08 criteria provided, single submitter 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.