Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000572630 | SCV000672788 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-22 | 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. |
Color Diagnostics, |
RCV000572630 | SCV000688037 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000649829 | SCV000771663 | likely benign | BAP1-related tumor predisposition syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003320700 | SCV004024930 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |