Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669420 | SCV000794169 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2017-09-18 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002253552 | SCV002522621 | 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 ( rs1247430874) in MODY yet. | |
Clinical Genomics, |
RCV002253553 | SCV002522622 | 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 ( rs1247430874) in neonatal diabetes yet. |