Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003470125 | SCV004193036 | likely pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2022-09-14 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003470125 | SCV004931736 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2024-02-16 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |