Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genomics, |
RCV002463723 | SCV002605120 | likely pathogenic | 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 . However, there is no sufficient evidence to ascertain the significance of rs1554334872 in MODY, yet. | |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000625570 | SCV000746066 | uncertain significance | Maturity-onset diabetes of the young type 2 | 2017-09-18 | no assertion criteria provided | clinical testing |