Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075338 | SCV000106335 | likely benign | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Intronic substitution with no effect on splicing, tested with NMD inhibitor |
Invitae | RCV002055078 | SCV002467453 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2020-10-28 | criteria provided, single submitter | clinical testing |