Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pathology and Laboratory Medicine, |
RCV000501433 | SCV000591080 | pathogenic | Familial multiple polyposis syndrome | criteria provided, single submitter | clinical testing | ||
Myriad Genetics, |
RCV003337293 | SCV004043993 | 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. |