Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075864 | SCV000106881 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing a premature termination codon & interrupts canonical acceptor splice site |
A. |
RCV000075864 | SCV000914319 | pathogenic | Lynch syndrome | 2019-01-30 | criteria provided, single submitter | research |