Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001395391 | SCV001597101 | likely benign | Chuvash polycythemia; Von Hippel-Lindau syndrome | 2022-08-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363426 | SCV002665698 | likely benign | Hereditary cancer-predisposing syndrome | 2020-03-31 | 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. |
Gene |
RCV000937631 | SCV003840665 | uncertain significance | not provided | 2023-03-03 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |