ClinVar Miner

Submissions for variant NC_000004.12:g.(?_150893032)_(150897838_?)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 RCV001032811 SCV001196118 pathogenic Combined immunodeficiency due to LRBA deficiency 2019-05-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 with LRBA-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exons 15-17 of the LRBA gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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