Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UW Hindbrain Malformation Research Program, |
RCV000201539 | SCV000256477 | pathogenic | Familial aplasia of the vermis | 2015-02-23 | criteria provided, single submitter | research | |
OMIM | RCV000202326 | SCV000257345 | pathogenic | Joubert syndrome 24 | 2011-05-13 | no assertion criteria provided | literature only |