Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076329 | SCV000107353 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
Clinical Genetics and Genomics, |
RCV000202244 | SCV001450257 | pathogenic | not provided | 2015-05-19 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000202244 | SCV000257160 | likely pathogenic | not provided | no assertion criteria provided | research |