Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665506 | SCV000789644 | uncertain significance | Hyperinsulinemic hypoglycemia, familial, 1 | 2017-02-08 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002251498 | SCV002522136 | 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 (rs1554914779) in neonatal diabetes yet. | |
Clinical Genomics, |
RCV002251497 | SCV002522137 | 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 ( rs1554914779) in MODY yet. |