Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000582330 | SCV000687940 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000649821 | SCV000771655 | likely benign | BAP1-related tumor predisposition syndrome | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000582330 | SCV002706332 | likely benign | Hereditary cancer-predisposing syndrome | 2020-06-23 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |