Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500528 | SCV000593000 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2017-04-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000518807 | SCV000612204 | uncertain significance | not specified | 2016-10-27 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002251481 | SCV002522260 | 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 (rs1554924142) in MODY yet. | |
Clinical Genomics, |
RCV002251482 | SCV002522261 | 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 (rs1554924142) in neonatal diabetes yet. |