ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.571C>T (p.Arg191Cys)

gnomAD frequency: 0.00069  dbSNP: rs3093370
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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 RCV000881026 SCV001024163 likely benign Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2023-10-19 criteria provided, single submitter clinical testing
GeneDx RCV003322834 SCV004027926 uncertain significance not provided 2023-02-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Reported as a heterozygous, de novo variant in a proband with a developmental disorder (Turner et al., 2019); This variant is associated with the following publications: (PMID: 31785789)

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