Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018306 | SCV001179527 | likely benign | Hereditary cancer-predisposing syndrome | 2018-01-23 | 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, |
RCV001018306 | SCV001359577 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001414654 | SCV001616794 | likely benign | Ataxia-telangiectasia syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing |