Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704351 | SCV000528567 | likely benign | not provided | 2019-06-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000458705 | SCV000561435 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000491492 | SCV000580349 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-16 | 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, |
RCV000491492 | SCV000690183 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-19 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000491492 | SCV002535613 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-15 | criteria provided, single submitter | curation | |
All of Us Research Program, |
RCV004000461 | SCV004843170 | likely benign | Lynch syndrome | 2023-11-20 | criteria provided, single submitter | clinical testing |