ClinVar Miner

Submissions for variant NC_000006.11:g.(?_33276773)_(33281550_?)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 RCV004578658 SCV005066160 uncertain significance MHC class I deficiency 2018-09-27 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TAPBP cause disease. This variant has not been reported in the literature in individuals with TAPBP-related disease. This variant is a deletion of the genomic region encompassing exon 3 and part of exon 2 (c.129_470-3609del) of the TAPBP gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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