Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000995634 | SCV001149917 | pathogenic | Shwachman-Diamond syndrome 1 | 2019-06-07 | criteria provided, single submitter | clinical testing |