Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029932 | SCV000052587 | likely benign | Maturity-onset diabetes of the young type 2 | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Likely benign. |
Prevention |
RCV000250733 | SCV000302770 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000250733 | SCV000513128 | benign | not specified | 2015-09-08 | 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. |
Invitae | RCV000896007 | SCV001040078 | benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000250733 | SCV001475134 | benign | not specified | 2020-07-15 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000250733 | SCV002069895 | likely benign | not specified | 2021-01-04 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002326692 | SCV002601605 | 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 rs145764627 in MODY, yet. | |
Ambry Genetics | RCV002326692 | SCV002690751 | benign | Maturity onset diabetes mellitus in young | 2016-10-27 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV002504830 | SCV002808972 | likely benign | Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 | 2022-04-29 | criteria provided, single submitter | clinical testing |