Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pediatric Endocrinology Clinic, |
RCV001268947 | SCV001446361 | likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | no assertion criteria provided | case-control |