Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163817 | SCV000214402 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-24 | 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 | RCV000556459 | SCV000625157 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-08 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163817 | SCV000689883 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711439 | SCV001939569 | benign | not provided | 2015-04-03 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995286 | SCV004835284 | likely benign | Lynch syndrome | 2023-02-24 | criteria provided, single submitter | clinical testing |