ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.659C>T (p.Pro220Leu)

gnomAD frequency: 0.00003  dbSNP: rs780311714
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267765 SCV001424081 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2020-05-21 no assertion criteria provided clinical testing

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