ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.653G>A (p.Arg218His)

gnomAD frequency: 0.00004  dbSNP: rs763721645
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001514781 SCV001722708 benign X-linked severe combined immunodeficiency 2022-11-02 criteria provided, single submitter clinical testing

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