Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076042 | SCV000107055 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing a premature termination codon |
Ce |
RCV002262620 | SCV002544032 | pathogenic | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | MSH2: PVS1, PM2 |