Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000995633 | SCV001149916 | likely pathogenic | Shwachman-Diamond syndrome 1 | 2019-06-03 | criteria provided, single submitter | clinical testing |