ClinVar Miner

Submissions for variant NM_000206.2(IL2RG):c.455T>G (p.Val152Gly) (rs193922348)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Pediatric Immunoinfectivology,Tor Vergata University RCV000766121 SCV000897599 pathogenic X-linked severe combined immunodeficiency 2019-02-28 no assertion criteria provided clinical testing SCID (Severe Combined Immunodeficiency) T-, B+, NK+, reduced IgM and IgA

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