Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018675 | SCV001179940 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-28 | 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 | RCV001421670 | SCV001624200 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-05-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000928221 | SCV001885655 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004003222 | SCV004843658 | likely benign | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing |