Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076801 | SCV000108283 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
OMIM | RCV000009827 | SCV000030048 | pathogenic | Mismatch repair cancer syndrome 4 | 2001-01-01 | no assertion criteria provided | literature only |