Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163643 | SCV000214213 | likely benign | Hereditary cancer-predisposing syndrome | 2013-12-11 | 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. |
Labcorp Genetics |
RCV002516454 | SCV003228544 | likely benign | Familial cancer of breast | 2022-08-10 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV002516454 | SCV005404481 | benign | Familial cancer of breast | 2024-07-24 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |