ClinVar Miner

Submissions for variant NM_000207.3(INS):c.188-10G>A

gnomAD frequency: 0.00262  dbSNP: rs41275198
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117278 SCV000151452 likely benign not specified 2016-11-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311427 SCV000369881 likely benign Transient Neonatal Diabetes, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000338328 SCV000369882 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000885544 SCV001028996 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001105129 SCV001262051 benign Maturity-onset diabetes of the young type 10 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000885544 SCV001946357 benign not provided 2019-11-21 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464114 SCV002605396 benign Neonatal insulin-dependent diabetes mellitus criteria provided, single submitter research Mutations in INS gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, as this mutation can cause beta cell destruction. However no sufficient evidence is found to ascertain the role of this particular variant rs41275198, yet.
Fulgent Genetics, Fulgent Genetics RCV002490797 SCV002795137 likely benign Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4 2021-12-22 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.