Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001012367 | SCV001172806 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-04 | 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. |
Labcorp Genetics |
RCV001398969 | SCV001600753 | likely benign | Peutz-Jeghers syndrome | 2023-06-09 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001398969 | SCV004837181 | likely benign | Peutz-Jeghers syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing |