ClinVar Miner

Submissions for variant NC_000012.11:g.(?_8756880)_(8765363_?)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 RCV004578414 SCV005067122 pathogenic Hyper-IgM syndrome type 2 2024-01-13 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the AICDA gene has been identified. Loss-of-function variants in AICDA are known to be pathogenic (PMID: 11007475). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with hyper-IgM syndrome (PMID: 16964591). For these reasons, this variant has been classified as Pathogenic.

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