Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000216705 | SCV000278359 | likely benign | Hereditary cancer-predisposing syndrome | 2015-09-17 | 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 | RCV000925979 | SCV001071534 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2020-04-03 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000216705 | SCV004356682 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-14 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003998585 | SCV004833308 | likely benign | Lynch syndrome | 2023-02-24 | criteria provided, single submitter | clinical testing |