ClinVar Miner

Submissions for variant NM_001167.3(XIAP):c.1141C>T (p.Arg381Ter) (rs1556408009)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626775 SCV000747478 pathogenic Recurrent infections; Sepsis 2017-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788724 SCV000927942 pathogenic not provided 2018-09-18 criteria provided, single submitter clinical testing
Mendelics RCV000990940 SCV001142010 pathogenic Lymphoproliferative syndrome 2, X-linked 2019-05-28 criteria provided, single submitter clinical testing

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