ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.183C>T (p.Tyr61=)

dbSNP: rs780612692
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
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464668 SCV002605380 benign Maturity onset diabetes mellitus in young criteria provided, single submitter research Potent mutations in GCK gene is associated with poor secretion of insulin. Its associated with milder forms of diabetes, which can be controlled by diet . However, there is no sufficient evidence to ascertain the significance of rs780612692 in MODY, yet.
Labcorp Genetics (formerly Invitae), Labcorp RCV003103169 SCV003462366 likely benign not provided 2022-10-01 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.