Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000550012 | SCV000624794 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000562587 | SCV000673953 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-11 | 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. |
Color Diagnostics, |
RCV000562587 | SCV001734269 | likely benign | Hereditary cancer-predisposing syndrome | 2020-10-20 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000562587 | SCV002535771 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-18 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478108 | SCV004221194 | likely benign | not provided | 2023-01-31 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004003683 | SCV004836365 | likely benign | Lynch syndrome | 2023-07-10 | criteria provided, single submitter | clinical testing |