Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674231 | SCV000799533 | uncertain significance | Hyperinsulinemic hypoglycemia, familial, 1 | 2018-04-24 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002245578 | SCV002515441 | 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 (rs1554910736) in MODY yet. | |
Clinical Genomics, |
RCV002245579 | SCV002515442 | 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 (rs1554910736) in neonatal diabetes yet. |