Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000569946 | SCV000662512 | likely benign | Hereditary cancer-predisposing syndrome | 2016-09-06 | 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, |
RCV000569946 | SCV000908399 | likely benign | Hereditary cancer-predisposing syndrome | 2018-05-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000920410 | SCV001065774 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-03-13 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000880 | SCV004840286 | likely benign | Lynch syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing |