Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000664896 | SCV000788925 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2016-12-21 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816667 | SCV002066889 | pathogenic | not provided | 2017-09-25 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002245074 | SCV002513342 | 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 ( rs1554904904) in MODY yet. | |
Clinical Genomics, |
RCV002245075 | SCV002513343 | 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 (rs1554904904 ) in neonatal diabetes yet. |