Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000944003 | SCV001089963 | likely benign | not provided | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002245771 | SCV002512176 | 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 ( rs773042150 ) in MODY yet. | |
Clinical Genomics, |
RCV002245772 | SCV002512177 | 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 ( rs773042150) in neonatal diabetes yet. | |
Natera, |
RCV001274286 | SCV001458258 | uncertain significance | Hereditary hyperinsulinism | 2020-04-10 | no assertion criteria provided | clinical testing |