Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001187306 | SCV001354072 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001206644 | SCV001377963 | likely benign | Ataxia-telangiectasia syndrome | 2023-11-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001187306 | SCV003868892 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Myriad Genetics, |
RCV004590178 | SCV005084902 | benign | Familial cancer of breast | 2024-05-14 | 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. |
Natera, |
RCV001206644 | SCV002082262 | uncertain significance | Ataxia-telangiectasia syndrome | 2021-04-29 | no assertion criteria provided | clinical testing |