Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000463145 | SCV000561015 | likely benign | Familial cancer of breast | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000570218 | SCV000661765 | likely benign | Hereditary cancer-predisposing syndrome | 2016-09-21 | 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. |
Gene |
RCV000608278 | SCV000727874 | likely benign | not provided | 2020-02-17 | criteria provided, single submitter | clinical testing |