Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759493 | SCV000888838 | uncertain significance | not provided | 2017-09-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001010470 | SCV001170674 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-29 | 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 | RCV001442456 | SCV001645405 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-08-04 | criteria provided, single submitter | clinical testing |