Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000567391 | SCV000676074 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-31 | 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, |
RCV000567391 | SCV000690005 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001429111 | SCV001631822 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000567391 | SCV002534390 | likely benign | Hereditary cancer-predisposing syndrome | 2021-04-20 | criteria provided, single submitter | curation | |
All of Us Research Program, |
RCV004001194 | SCV004831939 | likely benign | Lynch syndrome | 2023-04-03 | criteria provided, single submitter | clinical testing |