Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192589 | SCV000247469 | uncertain significance | not specified | 2015-06-18 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002463659 | SCV002605107 | benign | 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 rs775481896 in MODY, yet. | |
Invitae | RCV003765220 | SCV004680074 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing |