Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703549 | SCV000515852 | likely benign | not provided | 2019-02-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000536774 | SCV000624626 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000570215 | SCV000670085 | likely benign | Hereditary cancer-predisposing syndrome | 2017-06-06 | 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. |
Color Diagnostics, |
RCV000570215 | SCV000690184 | likely benign | Hereditary cancer-predisposing syndrome | 2017-08-10 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003996019 | SCV004835331 | likely benign | Lynch syndrome | 2023-04-10 | criteria provided, single submitter | clinical testing |