Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000429769 | SCV000515382 | likely benign | not specified | 2017-08-25 | 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. |
Invitae | RCV000874678 | SCV001016885 | likely benign | Juvenile polyposis syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001185750 | SCV001352018 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-01 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001185750 | SCV002538325 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-04-21 | criteria provided, single submitter | curation |