Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pediatric Endocrinology, |
RCV000850241 | SCV000890143 | likely pathogenic | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | no assertion criteria provided | clinical testing | NM_000500.9:c.254del was detected in trans with p.Ile173Asn (pathogenic). |