ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.413-5G>A

dbSNP: rs186946111
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029260 SCV000051906 uncertain Neonatal diabetes mellitus 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000763721 SCV000894605 uncertain significance Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000876485 SCV001019063 likely benign not provided 2021-12-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV001818179 SCV002064564 uncertain significance not specified 2019-06-17 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002254150 SCV002524100 uncertain significance Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant ( rs186946111) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002254151 SCV002524101 uncertain significance Transitory neonatal diabetes mellitus criteria provided, single submitter research Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant (rs186946111) in neonatal diabetes yet.

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.