Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075137 | SCV000106135 | likely benign | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Intronic substitution with no associated splicing aberration, tested with NMD inhibitors. |
Gene |
RCV001534925 | SCV001751894 | likely benign | not provided | 2019-11-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25871441, 18561205, 12070261) |
Invitae | RCV002055076 | SCV002415925 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-10-24 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257399 | SCV002528631 | likely benign | Hereditary cancer-predisposing syndrome | 2020-08-06 | criteria provided, single submitter | curation |