Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000603780 | SCV000727716 | likely benign | not specified | 2018-02-13 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV000774757 | SCV000908704 | likely benign | Hereditary cancer-predisposing syndrome | 2019-12-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002064316 | SCV002323172 | likely benign | BAP1-related tumor predisposition syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000774757 | SCV002537284 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-23 | criteria provided, single submitter | curation |