Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163091 | SCV000213596 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-30 | 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 | RCV000458721 | SCV000551265 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721034 | SCV000721155 | likely benign | not provided | 2019-06-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163091 | SCV000911466 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-28 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995233 | SCV004840129 | likely benign | Lynch syndrome | 2023-11-20 | criteria provided, single submitter | clinical testing |