Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002454900 | SCV002617799 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-13 | 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. |
Center for Genomic Medicine, |
RCV002465938 | SCV002760673 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003150560 | SCV003838329 | likely benign | Breast and/or ovarian cancer | 2023-03-03 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004005634 | SCV004826935 | likely benign | Lynch syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing |