Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235703 | SCV001600209 | likely benign | Familial adenomatous polyposis 1 | 2023-10-30 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002255585 | SCV002534678 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-17 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002255585 | SCV002733317 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-09 | 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. |