Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470804 | SCV000563737 | likely benign | BAP1-related tumor predisposition syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000572992 | SCV000672745 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-12 | 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. |
Color Diagnostics, |
RCV000572992 | SCV000682655 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001560038 | SCV001782370 | likely benign | not provided | 2021-08-30 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000572992 | SCV002537298 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-02 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV002268114 | SCV002550827 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |