Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000771776 | SCV000904459 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000938452 | SCV001084262 | likely benign | Familial cancer of breast | 2021-03-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000771776 | SCV001174153 | likely benign | Hereditary cancer-predisposing syndrome | 2019-12-08 | 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. |