Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000708735 | SCV000822138 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000872839 | SCV001014720 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000708735 | SCV001353841 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000708735 | SCV002676743 | likely benign | Hereditary cancer-predisposing syndrome | 2015-09-30 | 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. |
All of Us Research Program, |
RCV003999790 | SCV004839899 | likely benign | Lynch syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing |