Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076165 | SCV000107180 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
Clinical Genetics and Genomics, |
RCV001269958 | SCV001450342 | pathogenic | not provided | 2016-11-09 | criteria provided, single submitter | clinical testing | |
Zotz- |
RCV003387752 | SCV004099378 | pathogenic | Lynch syndrome 1 | 2023-10-30 | no assertion criteria provided | clinical testing |