Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000200851 | SCV000253097 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705143 | SCV000528392 | likely benign | not provided | 2018-05-09 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000428545 | SCV000601534 | likely benign | not specified | 2017-02-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563290 | SCV000676139 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-26 | 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, |
RCV000563290 | SCV002053147 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-01 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003996951 | SCV004842615 | likely benign | Lynch syndrome | 2023-02-22 | criteria provided, single submitter | clinical testing |