ClinVar Miner

Submissions for variant NC_000009.11:g.(?_214977)_(368155_?)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 RCV004565783 SCV003795326 pathogenic Autosomal recessive hyper-IgE syndrome 2023-02-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DOCK8-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 1-15 of the DOCK8 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 DOCK8 are known to be pathogenic (PMID: 14722525, 19776401).

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