Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076407 | SCV000107436 | likely benign | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Synonymous substitution with no effect on splicing & MAF 0.01-1% |
Invitae | RCV001412858 | SCV001614957 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2019-12-11 | criteria provided, single submitter | clinical testing |