Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000469946 | SCV000553963 | likely benign | BAP1-related tumor predisposition syndrome | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000582176 | SCV000688029 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000582176 | SCV001183431 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-31 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477998 | SCV004221491 | likely benign | not provided | 2023-03-16 | criteria provided, single submitter | clinical testing |