Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003111283 | SCV003793303 | pathogenic | Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 | 2021-09-08 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the NR0B1 gene has been identified. Loss-of-function variants in NR0B1 are known to be pathogenic (PMID: 7990958, 15841486). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with adrenal hypoplasia congenita and hypogonadotropic hypogonadism (PMID: 7609262, 9195207, 22761912). For these reasons, this variant has been classified as Pathogenic. |