Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001022454 | SCV001184193 | likely benign | Hereditary cancer-predisposing syndrome | 2018-04-30 | 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. |
Color Diagnostics, |
RCV001022454 | SCV001347868 | likely benign | Hereditary cancer-predisposing syndrome | 2019-10-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001483819 | SCV001688226 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2018-03-27 | criteria provided, single submitter | clinical testing |