ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.754A>G (p.Lys252Glu)

gnomAD frequency: 0.00006  dbSNP: rs765748584
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510202 SCV001717185 benign X-linked severe combined immunodeficiency 2024-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001510202 SCV002087221 likely benign X-linked severe combined immunodeficiency 2021-07-08 no assertion criteria provided clinical testing

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