ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.159C>T (p.Ser53=)

gnomAD frequency: 0.00001  dbSNP: rs762084352
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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 RCV000982533 SCV001130549 benign X-linked severe combined immunodeficiency 2022-07-25 criteria provided, single submitter clinical testing

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