Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Pediatrics And Neonatology, |
RCV000496979 | SCV000328418 | pathogenic | Vici syndrome | 2016-08-11 | no assertion criteria provided | research | Patient, a 4 year-old giel, showed severe developmental delay,hypotonia, seizure, hypopigmentation, and high-arched palate. This mutation was confirmed compound geterozygosity. |