Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centogene AG - |
RCV001250249 | SCV001424454 | likely pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | criteria provided, single submitter | clinical testing | ||
Myriad Genetics, |
RCV001250249 | SCV004189951 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-20 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |