Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075070 | SCV000106059 | likely benign | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Synonymous substitution with no splicing aberration, tested using NMD inhibitors |
Color Diagnostics, |
RCV000580632 | SCV000684705 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000972046 | SCV001119736 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000580632 | SCV001169755 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-24 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Sema4, |
RCV000580632 | SCV002536423 | likely benign | Hereditary cancer-predisposing syndrome | 2021-09-20 | criteria provided, single submitter | curation |