Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000566336 | SCV000672758 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-27 | 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, |
RCV000566336 | SCV000688048 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000649847 | SCV000771681 | likely benign | BAP1-related tumor predisposition syndrome | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001555403 | SCV001776817 | likely benign | not provided | 2019-09-16 | criteria provided, single submitter | clinical testing |