Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000513058 | SCV000609105 | uncertain significance | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088870 | SCV000651844 | likely benign | BAP1-related tumor predisposition syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000581369 | SCV000687902 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000581369 | SCV001170085 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-22 | 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. |
Gene |
RCV000513058 | SCV002769977 | uncertain significance | not provided | 2022-12-23 | 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 |