Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Personalized Diabetes Medicine Program, |
RCV000664137 | SCV000787589 | uncertain significance | Monogenic diabetes | 2017-08-01 | criteria provided, single submitter | research | ACMG Criteria:PP3 (6 predictors), BP4 (3 predictors), PM2 (absent in database) |
Clinical Genomics, |
RCV002246127 | SCV002513764 | 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 (rs1554906389) in neonatal diabetes yet. | |
Clinical Genomics, |
RCV002246126 | SCV002513765 | 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 (rs1554906389) in MODY yet. |