Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genomics, |
RCV002267020 | SCV002522329 | 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 (rs565662182) in MODY yet. | |
Clinical Genomics, |
RCV002267021 | SCV002522330 | 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 ( rs565662182) in neonatal diabetes yet. | |
Biochemical Molecular Genetic Laboratory, |
RCV000723284 | SCV000854673 | uncertain significance | ABCC8-related disorder | 2018-05-07 | no assertion criteria provided | clinical testing |