ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) (rs143523271)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725945 SCV000340726 uncertain significance not provided 2017-07-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000192643 SCV000247615 uncertain significance not specified 2015-06-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391048 SCV000415520 likely benign Insulin-resistant diabetes mellitus AND acanthosis nigricans 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306720 SCV000415521 likely benign Leprechaunism syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363783 SCV000415522 likely benign Pineal hyperplasia AND diabetes mellitus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000664156 SCV000787608 likely benign Monogenic diabetes 2017-03-24 criteria provided, single submitter research ACMG Criteria:BS2 (6 controls in T2DM), PP3 (2 predictors), BP4 (6 predictors)

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.