Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674702 | SCV000800088 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2018-05-22 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002246138 | SCV002513771 | 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 (rs1554906450) in MODY yet. | |
Clinical Genomics, |
RCV002246139 | SCV002513773 | 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 (rs1554906450) in neonatal diabetes yet. |