ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.1450G>A (p.Gly484Ser)

gnomAD frequency: 0.03310  dbSNP: rs3093386
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530270 SCV000653611 benign Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715293 SCV005293264 benign not provided criteria provided, single submitter not provided

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