ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.662T>C (p.Phe221Ser)

dbSNP: rs193922349
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030056 SCV000052711 likely pathogenic X-linked severe combined immunodeficiency 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.

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