ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.87G>A (p.Thr29=)

gnomAD frequency: 0.00002  dbSNP: rs779772745
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
Invitae RCV000912256 SCV001057351 benign X-linked severe combined immunodeficiency 2023-12-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000912256 SCV001453010 uncertain significance X-linked severe combined immunodeficiency 2020-01-24 no assertion criteria provided clinical testing

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