ClinVar Miner

Submissions for variant NM_000206.2(IL2RG):c.455T>C (p.Val152Ala) (rs193922348)

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Total submissions: 3
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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 RCV000030055 SCV000052710 likely pathogenic X-linked severe combined immunodeficiency 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
UCLA Clinical Genomics Center, UCLA RCV000030055 SCV000255389 pathogenic X-linked severe combined immunodeficiency 2013-08-27 criteria provided, single submitter clinical testing
Immunology Clinic,UCLA RCV000030055 SCV000804204 pathogenic X-linked severe combined immunodeficiency 2017-08-11 no assertion criteria provided research

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