ClinVar Miner

Submissions for variant NC_000004.12:g.(?_150683531)_(150761867_?)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 RCV001032812 SCV001196119 pathogenic Combined immunodeficiency due to LRBA deficiency 2023-04-06 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 LRBA-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 35-37 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).

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