ClinVar Miner

Submissions for variant NC_000004.12:g.(?_150310209)_(150350179_?)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 RCV000708245 SCV000837355 pathogenic Combined immunodeficiency due to LRBA deficiency 2018-02-24 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 49-53 of the LRBA gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with LRBA-related disease. Loss-of-function variants in LRBA are known to be pathogenic (PMID: 26206937, 26768763). For these reasons, this variant has been classified as Pathogenic.

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