Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000932845 | SCV001078533 | likely benign | not provided | 2023-08-07 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002245754 | SCV002513460 | 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 (rs574684578) in MODY yet. | |
Natera, |
RCV001277182 | SCV001464080 | likely benign | Hereditary hyperinsulinism | 2020-09-16 | no assertion criteria provided | clinical testing | |
Clinical Genomics, |
RCV002245755 | SCV002513461 | uncertain significance | Transitory neonatal diabetes mellitus | no assertion criteria provided | 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 (rs574684578 ) in neonatal diabetes yet. |