Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001020987 | SCV001182544 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-19 | 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. |
Labcorp Genetics |
RCV001482281 | SCV001686645 | likely benign | Renal cell carcinoma | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003493775 | SCV004243301 | likely benign | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing |