Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pars Genome Lab | RCV001533240 | SCV001749043 | benign | Leucine-induced hypoglycemia | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Pars Genome Lab | RCV001533241 | SCV001749044 | benign | Hyperinsulinemic hypoglycemia, familial, 1 | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Pars Genome Lab | RCV001533242 | SCV001749045 | benign | Diabetes mellitus, transient neonatal, 2 | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Pars Genome Lab | RCV001533243 | SCV001749046 | benign | Diabetes mellitus, permanent neonatal 3 | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001610440 | SCV001835250 | benign | not provided | 2018-08-09 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002243804 | SCV002512167 | 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 (rs1109591) in MODY yet. | |
Clinical Genomics, |
RCV002243805 | SCV002512169 | 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 (rs1109591 ) in neonatal diabetes yet. | |
Genetic Services Laboratory, |
RCV000145002 | SCV000192038 | likely benign | not specified | no assertion criteria provided | clinical testing |