ClinVar Miner

Submissions for variant NC_000008.10:g.(?_42146132)_(42146266_?)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 RCV004583293 SCV005062904 pathogenic Severe combined immunodeficiency due to IKK2 deficiency 2023-07-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the IKBKB 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 IKBKB are known to be pathogenic (PMID: 24369075, 24679846). This variant has not been reported in the literature in individuals affected with IKBKB-related conditions. For these reasons, this variant has been classified as Pathogenic.

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