Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075406 | SCV000106399 | likely pathogenic | Lynch syndrome | 2019-06-21 | reviewed by expert panel | curation | Interrupts canonical donor splice site |
Genetics and Molecular Pathology, |
RCV002466421 | SCV002761676 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2022-06-17 | criteria provided, single submitter | clinical testing |