Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001013205 | SCV001173757 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-24 | 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 | RCV001403237 | SCV001605102 | likely benign | Ataxia-telangiectasia-like disorder | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001013205 | SCV002538409 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-05 | criteria provided, single submitter | curation |