Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076818 | SCV000108272 | likely pathogenic | Lynch syndrome | 2019-06-21 | reviewed by expert panel | curation | Interrupts canonical donor splice site |
Center for Genomic Medicine, |
RCV003320559 | SCV004025140 | likely pathogenic | not provided | 2023-08-15 | criteria provided, single submitter | clinical testing |