ClinVar Miner

Submissions for variant NC_000001.10:g.(?_183556010)_(183556132_?)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 RCV004584050 SCV005066443 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2023-04-09 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: 23264412). This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the NCF2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in NCF2 are known to be pathogenic (PMID: 10498624, 20167518).

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