Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000222253 | SCV000274874 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-30 | 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. |
Invitae | RCV000222253 | SCV000559093 | benign | Hereditary cancer-predisposing syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257522 | SCV002538485 | likely benign | Nijmegen breakage syndrome-like disorder | 2021-04-23 | criteria provided, single submitter | curation | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002469076 | SCV002766306 | benign | not specified | 2022-11-19 | criteria provided, single submitter | clinical testing |