ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.653-7del

gnomAD frequency: 0.01724  dbSNP: rs766817873
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000965418 SCV001112685 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819062 SCV002066019 benign not specified 2021-02-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503031 SCV002807528 likely benign Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinism due to INSR deficiency; Leprechaunism syndrome; Rabson-Mendenhall syndrome 2021-09-01 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.