Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pathology and Laboratory Medicine, |
RCV000503307 | SCV000591147 | pathogenic | Familial multiple polyposis syndrome | 2015-11-20 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003337299 | SCV004044705 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-09 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |