Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194603 | SCV000246295 | uncertain significance | not specified | 2015-07-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000928929 | SCV001074551 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002250592 | SCV002520728 | 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 (rs186634115) in neonatal diabetes yet. | |
Clinical Genomics, |
RCV002250591 | SCV002520729 | 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 (rs186634115) in MODY yet. | |
Natera, |
RCV001274294 | SCV001458266 | likely benign | Hereditary hyperinsulinism | 2020-04-10 | no assertion criteria provided | clinical testing |