ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.318A>G (p.Leu106=)

dbSNP: rs1389116834
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001563867 SCV003298475 likely benign X-linked severe combined immunodeficiency 2023-05-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563867 SCV001786914 uncertain significance X-linked severe combined immunodeficiency 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563866 SCV001786913 uncertain significance Combined immunodeficiency, X-linked 2021-07-14 criteria provided, single submitter clinical testing

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