Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000233464 | SCV000290507 | benign | Fanconi anemia | 2025-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001570689 | SCV001795024 | uncertain significance | not provided | 2025-03-17 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in cases and controls in a breast cancer study (PMID: 33471991); This variant is associated with the following publications: (PMID: 33471991) |
Genetic Services Laboratory, |
RCV001820757 | SCV002069029 | likely benign | not specified | 2021-06-18 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002255337 | SCV002527306 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-07 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001820757 | SCV002774601 | benign | not specified | 2021-07-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001570689 | SCV005911147 | likely benign | not provided | 2025-03-01 | criteria provided, single submitter | clinical testing | FANCM: BP4, BS2 |