Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076587 | SCV000107616 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | In-frame large deletion leading to protein conformational change and inactive protein |