Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162784 | SCV000213262 | likely benign | Hereditary cancer-predisposing syndrome | 2014-11-10 | 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 | RCV000162784 | SCV000261700 | likely benign | Hereditary cancer-predisposing syndrome | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000987599 | SCV001136976 | likely benign | Nijmegen breakage syndrome-like disorder | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000987599 | SCV002538464 | likely benign | Nijmegen breakage syndrome-like disorder | 2020-11-19 | criteria provided, single submitter | curation |