ClinVar Miner

Submissions for variant NC_000004.11:g.(?_151792477)_(151793927_?)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 RCV004580777 SCV005064801 pathogenic Combined immunodeficiency due to LRBA deficiency 2022-11-29 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 18-19 of the LRBA 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 LRBA are known to be pathogenic (PMID: 26206937, 26768763). This variant has not been reported in the literature in individuals affected with LRBA-related conditions. For these reasons, this variant has been classified as Pathogenic.

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