Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591848 | SCV000706500 | benign | not specified | 2017-02-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000883078 | SCV000722957 | likely benign | not provided | 2021-03-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000883078 | SCV001026355 | benign | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000883078 | SCV001144029 | benign | not provided | 2019-07-22 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000591848 | SCV002069896 | likely benign | not specified | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002331016 | SCV002601606 | 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 rs142952813 in MODY, yet. | |
Ambry Genetics | RCV002331016 | SCV004079019 | likely benign | Maturity onset diabetes mellitus in young | 2023-07-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |