Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001179234 | SCV001343845 | likely benign | Hereditary cancer-predisposing syndrome | 2019-08-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001468172 | SCV001672211 | likely benign | Ataxia-telangiectasia syndrome | 2019-06-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001179234 | SCV002636907 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-13 | 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. |