Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000223059 | SCV000274694 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-19 | 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 | RCV000223059 | SCV000559112 | likely benign | Hereditary cancer-predisposing syndrome | 2023-09-20 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002469075 | SCV002766303 | likely benign | not specified | 2022-11-03 | criteria provided, single submitter | clinical testing |