Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV003336082 | SCV004043303 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-02 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Genome Sciences Centre, |
RCV001789779 | SCV000680033 | likely pathogenic | Colorectal cancer | no assertion criteria provided | research |