Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001451232 | SCV001654859 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001451232 | SCV001993497 | uncertain significance | not provided | 2019-08-20 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Clinical Genomics, |
RCV002226774 | SCV002505409 | uncertain significance | Maturity onset diabetes mellitus in young | criteria provided, single submitter | research | Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which may be responsive to oral sulfonylureas. It is also associated with with Neonatal Diabetes. However, no sufficient evidence is found to ascertain the role of rs77131926 variant in MODY yet. | |
Ambry Genetics | RCV004035507 | SCV004889938 | uncertain significance | Inborn genetic diseases | 2022-05-10 | criteria provided, single submitter | clinical testing | Unlikely to be causative of KCNJ11-related monogenic diabetes (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001280339 | SCV001467515 | uncertain significance | Permanent neonatal diabetes mellitus | 2020-08-30 | no assertion criteria provided | clinical testing |