Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biochemical Molecular Genetic Laboratory, |
RCV001283832 | SCV001469254 | likely pathogenic | Hypotonia, ataxia, and delayed development syndrome | 2020-10-11 | no assertion criteria provided | clinical testing |