ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.[160T>C;245G>T]

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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 RCV000766123 SCV000897601 likely pathogenic Immunodeficiency 104 2019-02-28 no assertion criteria provided clinical testing Atypical IL7R deficiency with maternal engraftment

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