ClinVar Miner

Submissions for variant NC_000023.10:g.(?_30322696)_(30327480_?)del

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Total submissions: 1
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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.

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