Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673296 | SCV000798480 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2018-03-12 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002245572 | SCV002513306 | 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 ( rs1554904136) in MODY yet. | |
Clinical Genomics, |
RCV002245573 | SCV002513307 | 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 ( rs1554904136 ) in neonatal diabetes yet. |