Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV000995473 | SCV001149658 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2020-01-17 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002245827 | SCV002513304 | 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 ( rs1591705863) in MODY yet. | |
Clinical Genomics, |
RCV002245828 | SCV002513305 | 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 ( rs1591705863) in neonatal diabetes yet. |