Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pars Genome Lab | RCV001533227 | SCV001749023 | likely benign | Leucine-induced hypoglycemia | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Pars Genome Lab | RCV001533228 | SCV001749024 | likely benign | Hyperinsulinemic hypoglycemia, familial, 1 | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Pars Genome Lab | RCV001533229 | SCV001749025 | likely benign | Diabetes mellitus, transient neonatal, 2 | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Pars Genome Lab | RCV001533230 | SCV001749026 | likely benign | Diabetes mellitus, permanent neonatal 3 | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001655817 | SCV001864651 | benign | not provided | 2018-08-09 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002286529 | SCV002574778 | benign | 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 (rs4148630) in MODY yet. | |
Clinical Genomics, |
RCV002286530 | SCV002574779 | 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 (rs4148630) in neonatal diabetes yet. | |
Breakthrough Genomics, |
RCV001655817 | SCV005221372 | likely benign | not provided | criteria provided, single submitter | not provided |