Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Molecular Genetics, |
RCV000415103 | SCV000493070 | likely pathogenic | Severe intellectual deficiency | no assertion criteria provided | clinical testing | ||
OMIM | RCV000664410 | SCV000788341 | pathogenic | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 2018-07-27 | no assertion criteria provided | literature only |