Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000983430 | SCV001131452 | likely benign | not provided | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002267062 | SCV002522339 | 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 (rs17846731) in neonatal diabetes yet. | |
Clinical Genomics, |
RCV002267061 | SCV002522340 | 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 (rs17846731) in MODY yet. | |
Natera, |
RCV001832296 | SCV002075761 | likely benign | Hereditary hyperinsulinism | 2020-02-03 | no assertion criteria provided | clinical testing |