Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721278 | SCV000527796 | likely benign | not provided | 2018-12-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000536970 | SCV000651891 | likely benign | BAP1-related tumor predisposition syndrome | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000567433 | SCV000664586 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-04 | 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, |
RCV000567433 | SCV000682629 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-30 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003493571 | SCV004243169 | likely benign | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing |