Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502737 | SCV000594948 | likely pathogenic | Maturity-onset diabetes of the young type 2 | 2017-02-15 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002463691 | SCV002605082 | likely risk allele | 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 rs1554334579 in MODY, yet. |