Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672599 | SCV000797716 | uncertain significance | Hyperinsulinemic hypoglycemia, familial, 1 | 2018-02-07 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002253558 | SCV002522699 | 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 (rs1554949238) in MODY yet. | |
Clinical Genomics, |
RCV002254309 | SCV002522702 | 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 (rs1554949238) in neonatal diabetes yet. |