Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV001261439 | SCV001438736 | pathogenic | Lynch syndrome 5 | 2020-05-12 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV001261439 | SCV004185600 | pathogenic | Lynch syndrome 5 | 2023-08-21 | 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. |