Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV000000847 | SCV004045168 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-03 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
OMIM | RCV000000847 | SCV000020997 | pathogenic | Familial adenomatous polyposis 1 | 1992-08-01 | no assertion criteria provided | literature only |