Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231723 | SCV000285166 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571622 | SCV000663476 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-06 | 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. |
Color Diagnostics, |
RCV000571622 | SCV000905509 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001682936 | SCV001899936 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798734 | SCV002042820 | likely benign | Breast and/or ovarian cancer | 2020-01-08 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003998799 | SCV004842165 | likely benign | Lynch syndrome | 2023-06-08 | criteria provided, single submitter | clinical testing |