Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001079906 | SCV000563753 | benign | BAP1-related tumor predisposition syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000580785 | SCV000682567 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000831595 | SCV000973348 | likely benign | not provided | 2020-09-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000580785 | SCV001171259 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-01 | 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. |
Sema4, |
RCV000580785 | SCV002537253 | benign | Hereditary cancer-predisposing syndrome | 2021-12-15 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000831595 | SCV004220421 | benign | not provided | 2022-09-10 | criteria provided, single submitter | clinical testing |