ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.511G>C (p.Glu171Gln)

gnomAD frequency: 0.00003  dbSNP: rs763359860
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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 RCV000983449 SCV001131471 benign X-linked severe combined immunodeficiency 2024-01-22 criteria provided, single submitter clinical testing

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