Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001776321 | SCV002012792 | uncertain significance | not provided | 2019-06-28 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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 |
Labcorp Genetics |
RCV001885127 | SCV002308160 | likely benign | Renal cell carcinoma | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002359250 | SCV002654569 | benign | Hereditary cancer-predisposing syndrome | 2023-09-03 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. |
Laboratory of Molecular Epidemiology of Birth Defects, |
RCV003154195 | SCV003843407 | benign | Ovarian cancer | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001776321 | SCV005622936 | uncertain significance | not provided | 2024-02-16 | criteria provided, single submitter | clinical testing |