Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pediatric Endocrinology, |
RCV000850240 | SCV000890141 | likely pathogenic | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | no assertion criteria provided | clinical testing | NM_000500.9:c.961_963del was detected in trans with c.293-13C>G (pathogenic). |