Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001437239 | SCV001640091 | likely benign | not provided | 2023-12-29 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002267089 | SCV002522165 | 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 (rs370096884) in neonatal diabetes yet. | |
Clinical Genomics, |
RCV002267088 | SCV002522166 | 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 (rs370096884) in MODY yet. | |
Natera, |
RCV001278409 | SCV001465422 | uncertain significance | Hereditary hyperinsulinism | 2020-04-10 | no assertion criteria provided | clinical testing |