Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076538 | SCV000107567 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
OMIM | RCV000001831 | SCV000021987 | pathogenic | Muir-Torré syndrome | 1997-06-01 | no assertion criteria provided | literature only |