Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Shenzhen Institute of Pediatrics, |
RCV000508957 | SCV000600013 | likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2017-08-10 | criteria provided, single submitter | clinical testing | The patient carries a compound heterozygote mutation, one is confirmed to be pathogenic. The genotype:[c.282-2A>G]+[c.725A>G(p. Tyr242Cys)] |