Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001712184 | SCV000512595 | likely benign | not provided | 2021-03-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000467751 | SCV000561024 | likely benign | Familial cancer of breast | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000573352 | SCV000669233 | likely benign | Hereditary cancer-predisposing syndrome | 2015-10-11 | 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. |
Color Diagnostics, |
RCV000573352 | SCV000910402 | likely benign | Hereditary cancer-predisposing syndrome | 2017-12-19 | criteria provided, single submitter | clinical testing |