ClinVar Miner

Submissions for variant NM_000206.2(IL2RG):c.47T>C (p.Leu16Pro) (rs879253742)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000234914 SCV000280598 likely pathogenic X-linked severe combined immunodeficiency 2016-06-08 no assertion criteria provided research Variant c.47T>C found to be pathogenic by online software Mutation Taster, Polyphen-2, LRT, SIFT.

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