Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000162107 | SCV000196392 | likely pathogenic | Global developmental delay; Seizure; Hearing impairment; Hypermetropia; Strabismus; Hypotonia | 2014-12-01 | no assertion criteria provided | research |