ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.542C>T (p.Pro181Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003992133 SCV004812105 likely pathogenic X-linked lymphoproliferative disease due to XIAP deficiency 2024-03-20 criteria provided, single submitter clinical testing

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