Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000584163 | SCV000689888 | likely benign | Hereditary cancer-predisposing syndrome | 2016-07-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000871856 | SCV001013582 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000584163 | SCV001184589 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-06 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV003150286 | SCV003838859 | likely benign | Breast and/or ovarian cancer | 2021-07-05 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004002323 | SCV004835289 | likely benign | Lynch syndrome | 2023-05-31 | criteria provided, single submitter | clinical testing |