Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center For Human Genetics And Laboratory Diagnostics, |
RCV000496949 | SCV000588147 | uncertain significance | Alagille syndrome due to a JAG1 point mutation | 2017-03-08 | criteria provided, single submitter | clinical testing |