Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000942332 | SCV001088254 | likely benign | not provided | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002245768 | SCV002513340 | 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 ( rs752222583) in MODY yet. | |
Clinical Genomics, |
RCV002245769 | SCV002513341 | 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 (rs752222583) in neonatal diabetes yet. | |
Natera, |
RCV001274288 | SCV001458260 | uncertain significance | Hereditary hyperinsulinism | 2020-01-24 | no assertion criteria provided | clinical testing |