Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000776824 | SCV000912480 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000776824 | SCV001177744 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-18 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 | RCV002535579 | SCV003458303 | likely benign | Familial cancer of breast | 2022-09-13 | criteria provided, single submitter | clinical testing |