Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000664521 | SCV000788496 | uncertain significance | Hyperinsulinemic hypoglycemia, familial, 1 | 2017-01-25 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816665 | SCV002065923 | uncertain significance | not specified | 2022-01-05 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002251493 | SCV002521914 | 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 ( rs1225850029) in MODY yet. | |
Clinical Genomics, |
RCV002251494 | SCV002521915 | 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 ( rs1225850029) in neonatal diabetes yet. |