Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001180796 | SCV001345810 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001438082 | SCV001640949 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-02-01 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004003758 | SCV004839855 | likely benign | Lynch syndrome | 2023-10-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001180796 | SCV005035846 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-13 | 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. |