Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000569849 | SCV000663487 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-09 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588492 | SCV000697279 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000569849 | SCV001354863 | likely benign | Hereditary cancer-predisposing syndrome | 2016-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001416289 | SCV001618468 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001544866 | SCV001764082 | likely benign | not provided | 2019-04-25 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000892 | SCV004839847 | likely benign | Lynch syndrome | 2023-10-23 | criteria provided, single submitter | clinical testing |