ClinVar Miner

Submissions for variant NC_000023.10:g.(?_37545215)_(37670170_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003111162 SCV003793180 pathogenic Granulomatous disease, chronic, X-linked 2022-08-13 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CYBB gene has been identified. Loss-of-function variants in CYBB are known to be pathogenic (PMID: 9585602, 20729109). 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 chronic granulomatous disease (PMID: 22929960, 27701760). For these reasons, this variant has been classified as Pathogenic.

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