Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Shenzhen Institute of Pediatrics, |
RCV000327432 | SCV000329000 | likely pathogenic | Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 2016-04-06 | criteria provided, single submitter | clinical testing |