Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biochemical Molecular Genetic Laboratory, |
RCV000985067 | SCV001133015 | likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 2019-09-26 | no assertion criteria provided | clinical testing |