Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000777026 | SCV000912705 | likely benign | Hereditary cancer-predisposing syndrome | 2017-12-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000936242 | SCV001082007 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000777026 | SCV001171692 | likely benign | Hereditary cancer-predisposing syndrome | 2018-04-25 | 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, |
RCV001193848 | SCV001362994 | likely benign | not specified | 2020-01-31 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004001489 | SCV004833274 | likely benign | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing |