Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000582466 | SCV000691126 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692214 | SCV001915372 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002065109 | SCV002397768 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000582466 | SCV002688060 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |