Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000577899 | SCV000583563 | likely pathogenic | Autosomal dominant Robinow syndrome 2 | 2017-06-01 | criteria provided, single submitter | research | |
Autoinflammatory diseases unit, |
RCV000577899 | SCV001438230 | pathogenic | Autosomal dominant Robinow syndrome 2 | 2016-04-26 | no assertion criteria provided | clinical testing |