Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000872232 | SCV001014019 | likely benign | Fanconi anemia | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001557182 | SCV001778901 | uncertain significance | not provided | 2023-09-28 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |