ClinVar Miner

Submissions for variant NC_000023.11:g.[124350560_124365777del;124365777_124365917inv;124365911_124365916del]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Neurology, Hunan Children's Hospital RCV001580364 SCV001786702 likely pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency no assertion criteria provided clinical testing We use extended WES to identify a novel genomic structure variation combined by paracentric inversion and large size deletions of the SH2D1A gene in an XLP1 male patient. The variant functionally disrupted the splice site causing the exon 2 skipping was confirmed by Inversion-PCR, RT-PCR, and Gap-PCR.

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