ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2222+12A>G

gnomAD frequency: 0.00006  dbSNP: rs534103042
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251581 SCV002522236 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 (rs534103042) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251582 SCV002522237 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 (rs534103042) in neonatal diabetes yet.
Labcorp Genetics (formerly Invitae), Labcorp RCV002542895 SCV003520776 benign not provided 2024-07-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005057200 SCV005726687 likely benign not specified 2024-11-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278412 SCV001465425 uncertain significance Hereditary hyperinsulinism 2020-04-10 no assertion criteria provided 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.