Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
emedgene Technologies | RCV000223722 | SCV000267193 | pathogenic | Syndromic X-linked intellectual disability 34 | 2016-02-01 | no assertion criteria provided | research | For more information see: Reinstein et al. "Intellectual disability and non-compaction cardiomyopathy with a de-novo NONO mutation identified by exome sequencing" |
Daryl Scott Lab, |
RCV000223722 | SCV000992535 | pathogenic | Syndromic X-linked intellectual disability 34 | 2019-09-16 | no assertion criteria provided | clinical testing |