Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000506218 | SCV000600256 | uncertain significance | not specified | 2016-11-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001012181 | SCV001172604 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-13 | 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 | RCV002056896 | SCV002495260 | likely benign | Hereditary breast ovarian cancer syndrome | 2021-07-03 | criteria provided, single submitter | clinical testing |