Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Division, |
RCV000190895 | SCV000245769 | likely pathogenic | Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability | 2015-08-01 | criteria provided, single submitter | research | |
OMIM | RCV000235008 | SCV000292377 | pathogenic | Macrocephaly, dysmorphic facies, and psychomotor retardation | 2016-08-04 | no assertion criteria provided | literature only |