Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000459461 | SCV000563744 | likely benign | BAP1-related tumor predisposition syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000579490 | SCV000682582 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000579490 | SCV001172492 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-06 | 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. |