Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001175241 | SCV001338815 | likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2019-05-29 | no assertion criteria provided | clinical testing |