Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075609 | SCV000106606 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding variation resulting in premature termination codon |