Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075862 | SCV000106879 | likely benign | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Intronic substitution with no effect on splicing, tested with NMD inhibitor |