Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000681614 | SCV000807679 | pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2018-09-15 | criteria provided, single submitter | clinical testing | This deletion includes all of exon 2 (NM_000348.3). |