Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000562359 | SCV000665538 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-02 | 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. |
Sema4, |
RCV000562359 | SCV002535387 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-19 | criteria provided, single submitter | curation | |
Labcorp Genetics |
RCV003605641 | SCV004447219 | likely benign | Ataxia-telangiectasia syndrome | 2023-03-21 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV004592676 | SCV005084315 | benign | Familial cancer of breast | 2024-05-21 | 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. |