ClinVar Miner

Submissions for variant NM_000207.3(INS):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00001  dbSNP: rs757124361
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001946765 SCV002236268 pathogenic not provided 2021-07-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492128 SCV002780025 likely pathogenic Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4 2022-05-13 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.