ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.282G>A (p.Ser94=)

gnomAD frequency: 0.00039  dbSNP: rs142807857
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 RCV000897046 SCV001041164 benign X-linked severe combined immunodeficiency 2024-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000897046 SCV001453009 likely benign X-linked severe combined immunodeficiency 2019-11-11 no assertion criteria provided clinical testing

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