Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001017918 | SCV001179084 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-05 | 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. |
Invitae | RCV001480134 | SCV001684448 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2018-12-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001017918 | SCV004359650 | likely benign | Hereditary cancer-predisposing syndrome | 2022-04-05 | criteria provided, single submitter | clinical testing |