Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000002089 | SCV000022247 | pathogenic | Joubert syndrome 3 | 2013-05-10 | no assertion criteria provided | literature only | |
Developmental Genetics Unit, |
RCV000162132 | SCV000196417 | likely pathogenic | Global developmental delay; Typical Joubert syndrome MRI findings | 2014-12-01 | no assertion criteria provided | research |