Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165534 | SCV000216266 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-14 | 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 | RCV000206368 | SCV000259439 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711444 | SCV000513659 | likely benign | not provided | 2019-05-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000165534 | SCV000684930 | likely benign | Hereditary cancer-predisposing syndrome | 2016-02-23 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995424 | SCV004824971 | likely benign | Lynch syndrome | 2023-11-30 | criteria provided, single submitter | clinical testing |