Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669304 | SCV000794046 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2017-11-14 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002245556 | SCV002515476 | 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 ( rs1554911369) in neonatal diabetes yet. | |
Clinical Genomics, |
RCV002245555 | SCV002515477 | 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 ( rs1554911369) in MODY yet. | |
Baylor Genetics | RCV003472114 | SCV004201446 | likely pathogenic | Type 2 diabetes mellitus | 2023-04-17 | criteria provided, single submitter | clinical testing |