Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000701735 | SCV000830548 | likely benign | Renal cell carcinoma | 2023-06-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000762477 | SCV000892800 | uncertain significance | not provided | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000762477 | SCV002005320 | uncertain significance | not provided | 2019-09-04 | 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 |
Ambry Genetics | RCV002386246 | SCV002693913 | benign | Hereditary cancer-predisposing syndrome | 2024-11-05 | 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. |