Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411703 | SCV000485679 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2016-01-28 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002244846 | SCV002515428 | 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 ( rs1057516439) in neonatal diabetes yet. | |
Clinical Genomics, |
RCV002244845 | SCV002515430 | 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 ( rs1057516439) in MODY yet. |