ClinVar Miner

Submissions for variant NC_000023.10:g.(?_37545215)_(37664441_?)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 RCV003111163 SCV003793181 pathogenic Granulomatous disease, chronic, X-linked 2022-09-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with chronic granulomatous disease (PMID: 8634410, 20729109). This variant is a gross deletion of the genomic region encompassing exon(s) 1-10 of the CYBB gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYBB are known to be pathogenic (PMID: 9585602, 20729109).

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