ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.942G>A (p.Leu314=)

gnomAD frequency: 0.00001  dbSNP: rs758862352
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001992210 SCV002284092 likely benign Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2022-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893061 SCV004711582 likely benign IL21R-related disorder 2021-01-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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