Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000616972 | SCV000726118 | likely benign | not specified | 2017-12-28 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Athena Diagnostics Inc | RCV000711771 | SCV000842167 | benign | not provided | 2017-09-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000711771 | SCV002409882 | benign | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002464027 | SCV002605277 | 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 rs191255582 in MODY, yet. | |
Fulgent Genetics, |
RCV002506472 | SCV002807137 | benign | Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 | 2021-08-30 | criteria provided, single submitter | clinical testing |