Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076723 | SCV000107757 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Institute of Human Genetics, |
RCV003493434 | SCV004242404 | pathogenic | Lynch syndrome 1 | 2023-12-14 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1,PM2_SUP,PP4 |