ClinVar Miner

Submissions for variant NM_000207.3(INS):c.63A>G (p.Pro21=)

gnomAD frequency: 0.00546  dbSNP: rs11564720
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
PreventionGenetics, part of Exact Sciences RCV000254342 SCV000302991 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000969598 SCV001117124 benign not provided 2023-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000969598 SCV001865396 benign not provided 2020-07-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365256 SCV002658851 likely benign Inborn genetic diseases 2022-03-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003445811 SCV004174206 uncertain significance Maturity-onset diabetes of the young type 10 criteria provided, single submitter research Potent mutations in the INS gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, mutations in this gene can cause beta cell destruction.However, more evidence is required to confer the association of this particular synonymous variant P21P/ rs11564720 with Maturity-onset diabetes of the young (MODY).
Breakthrough Genomics, Breakthrough Genomics RCV000969598 SCV005321277 benign not provided criteria provided, single submitter not provided

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.