Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000219535 | SCV000273445 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-16 | 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. |
Invitae | RCV000630278 | SCV000751234 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000219535 | SCV001353137 | likely benign | Hereditary cancer-predisposing syndrome | 2020-03-02 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997796 | SCV004839834 | likely benign | Lynch syndrome | 2023-02-15 | criteria provided, single submitter | clinical testing |