Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000526633 | SCV000651873 | likely benign | BAP1-related tumor predisposition syndrome | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000564708 | SCV000672766 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-21 | 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, |
RCV000564708 | SCV000687979 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001696954 | SCV000724922 | likely benign | not provided | 2021-06-17 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26452128) |
Sema4, |
RCV000564708 | SCV002537273 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-28 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV003493638 | SCV004243162 | likely benign | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing |