Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000213714 | SCV000278610 | likely benign | Hereditary cancer-predisposing syndrome | 2015-09-25 | 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 | RCV000213714 | SCV000753445 | likely benign | Hereditary cancer-predisposing syndrome | 2023-06-09 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257525 | SCV002538459 | likely benign | Nijmegen breakage syndrome-like disorder | 2021-10-27 | criteria provided, single submitter | curation |