ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.75G>A (p.Thr25=)

gnomAD frequency: 0.00002  dbSNP: rs754951792
Minimum review status: Collection method:
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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 RCV001510180 SCV001717145 benign X-linked severe combined immunodeficiency 2023-08-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001510180 SCV002087238 likely benign X-linked severe combined immunodeficiency 2021-09-15 no assertion criteria provided clinical testing

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