Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000206599 | SCV000259510 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000568689 | SCV000662412 | likely benign | Hereditary cancer-predisposing syndrome | 2016-02-04 | 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. |
Gene |
RCV001697239 | SCV000732386 | likely benign | not provided | 2018-10-17 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000568689 | SCV001344758 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-24 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000568689 | SCV002528083 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-10 | criteria provided, single submitter | curation | |
All of Us Research Program, |
RCV003997570 | SCV004835165 | likely benign | Lynch syndrome | 2024-01-03 | criteria provided, single submitter | clinical testing |