Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000198154 | SCV000254679 | likely benign | Renal cell carcinoma | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV002267933 | SCV002550789 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390536 | SCV002703770 | likely benign | Hereditary cancer-predisposing syndrome | 2021-02-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |