Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075359 | SCV000106353 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
OMIM | RCV000018615 | SCV000038898 | pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 1998-10-01 | no assertion criteria provided | literature only |