Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000941637 | SCV001087530 | likely benign | not provided | 2023-12-15 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002245764 | SCV002513308 | 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 ( rs1476016104) in MODY yet. | |
Clinical Genomics, |
RCV002245765 | SCV002513309 | 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 ( rs1476016104) in neonatal diabetes yet. | |
New York Genome Center | RCV003227877 | SCV003925176 | uncertain significance | Hyperinsulinemic hypoglycemia, familial, 1 | 2022-01-10 | criteria provided, single submitter | clinical testing |