Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000461758 | SCV000563733 | likely benign | BAP1-related tumor predisposition syndrome | 2023-08-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395140 | SCV002702624 | likely benign | Hereditary cancer-predisposing syndrome | 2019-12-07 | 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. |
Genetic Services Laboratory, |
RCV003151075 | SCV003839246 | likely benign | not specified | 2022-07-27 | no assertion criteria provided | clinical testing |