Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165764 | SCV000216509 | likely benign | Hereditary cancer-predisposing syndrome | 2014-09-15 | 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 | RCV000231535 | SCV000283795 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000409954 | SCV000488273 | likely benign | Lynch syndrome 5 | 2016-02-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000165764 | SCV000685372 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001194367 | SCV001363855 | likely benign | not specified | 2020-01-31 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000409954 | SCV004018880 | benign | Lynch syndrome 5 | 2023-03-28 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
All of Us Research Program, |
RCV003995454 | SCV004835019 | likely benign | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing |