ClinVar Miner

Submissions for variant NC_000001.10:g.(?_183529360)_(183586672_?)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 RCV004584053 SCV005066446 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2023-11-14 criteria provided, single submitter clinical testing This variant results in the deletion of exons 1-13 and part of exon 14 (c.-27208_1339delins51) of the NCF2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NCF2 are known to be pathogenic (PMID: 10498624, 20167518). This variant has not been reported in the literature in individuals affected with NCF2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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