Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000475392 | SCV000563755 | likely benign | BAP1-related tumor predisposition syndrome | 2023-07-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001182205 | SCV001347562 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001182205 | SCV002658638 | likely benign | Hereditary cancer-predisposing syndrome | 2020-04-21 | 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. |
Ce |
RCV003431043 | SCV004148103 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | BAP1: BP4, BP7 |