Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075662 | SCV000106664 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding variation introducing premature termination codon |
Myriad Genetics, |
RCV003451136 | SCV004189863 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-13 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |