Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000162179 | SCV000196465 | likely pathogenic | Congenital cerebellar hypoplasia; Seizure; Severe global developmental delay | 2014-12-01 | no assertion criteria provided | research |