ClinVar Miner

Submissions for variant NM_000525.3(KCNJ11):c.584G>A (p.Arg195His) (rs5217)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146112 SCV000193329 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Counsyl RCV000669893 SCV000794690 uncertain significance Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 3; Hyperinsulinemic hypoglycemia, familial, 2 2017-10-13 criteria provided, single submitter clinical testing
Invitae RCV000883944 SCV001027287 likely benign not provided 2020-11-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000883944 SCV001144382 likely benign not provided 2018-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000883944 SCV001791770 likely benign not provided 2018-09-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21544516, 21119644, 27908292)
Natera, Inc. RCV001275135 SCV001459966 likely benign Permanent neonatal diabetes mellitus 2020-09-16 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.