Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000876000 | SCV001018502 | likely benign | Rhabdoid tumor predisposition syndrome 2 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001026997 | SCV001189483 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-18 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478562 | SCV004221249 | likely benign | not provided | 2022-10-07 | criteria provided, single submitter | clinical testing |