ClinVar Miner

Submissions for variant NM_000417.3(IL2RA):c.99C>T (p.His33=)

gnomAD frequency: 0.00001  dbSNP: rs1404900373
Minimum review status: Collection method:
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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 RCV002140200 SCV002456121 likely benign Immunodeficiency due to CD25 deficiency 2024-01-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707787 SCV005224969 likely benign not provided criteria provided, single submitter not provided

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