ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.1002G>A (p.Glu334=)

gnomAD frequency: 0.00011  dbSNP: rs376679881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001510577 SCV001717648 benign X-linked severe combined immunodeficiency 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001510577 SCV002087212 likely benign X-linked severe combined immunodeficiency 2021-07-26 no assertion criteria provided clinical testing

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