Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667474 | SCV000791927 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2017-05-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763235 | SCV000893868 | likely pathogenic | Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002254307 | SCV002524109 | 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 ( rs1554948310) in MODY yet. | |
Clinical Genomics, |
RCV002254308 | SCV002524111 | 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 ( rs1554948310) in neonatal diabetes yet. |