Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000463663 | SCV000558910 | likely benign | Fanconi anemia | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001555524 | SCV001776962 | uncertain significance | not provided | 2022-10-04 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in a patient with rosette-forming glioneuronal tumor (Lin et al., 2016); This variant is associated with the following publications: (PMID: 27626068) |
Sema4, |
RCV002256303 | SCV002529865 | likely benign | Hereditary cancer-predisposing syndrome | 2020-11-25 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001555524 | SCV002774156 | likely benign | not provided | 2022-09-06 | criteria provided, single submitter | clinical testing |