Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502957 | SCV000594945 | pathogenic | Hyperinsulinism due to glucokinase deficiency | 2016-12-27 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002287417 | SCV002577626 | uncertain significance | Maturity onset diabetes mellitus in young | criteria provided, single submitter | research | Potent mutations in GCK gene is associated with poor secretion of insulin. Its associated with milder forms of diabetes, which can be controlled by diet well. However, there is no sufficient evidence to assertain the significance of rs1554334433 in MODY, yet. This variant is shown to be potentially damaging by insilico analysis. |