Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001176148 | SCV001340027 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001428305 | SCV001631002 | likely benign | Ataxia-telangiectasia syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001176148 | SCV002717883 | likely benign | Hereditary cancer-predisposing syndrome | 2019-08-10 | 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. |