Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498584 | SCV000589482 | likely benign | not provided | 2022-05-16 | criteria provided, single submitter | clinical testing | In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |
Institute of Human Genetics, |
RCV001095676 | SCV001251446 | uncertain significance | FRAXE | 2019-10-29 | criteria provided, single submitter | clinical testing |