ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.563del (p.Leu188fs)

dbSNP: rs2087444941
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Total submissions: 3
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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 RCV001253460 SCV001429174 likely pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 2017-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262479 SCV001440374 likely pathogenic Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2019-01-01 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001262479 SCV004808016 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2024-03-29 criteria provided, single submitter clinical testing

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