Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001019652 | SCV001181038 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-28 | 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, |
RCV001019652 | SCV001343699 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001445450 | SCV001648481 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-01 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004004588 | SCV004826349 | likely benign | Lynch syndrome | 2023-10-30 | criteria provided, single submitter | clinical testing |