ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.798T>C (p.Ser266=)

gnomAD frequency: 0.00001  dbSNP: rs764914063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001519100 SCV001727907 benign X-linked severe combined immunodeficiency 2023-09-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001519100 SCV002087216 likely benign X-linked severe combined immunodeficiency 2020-01-26 no assertion criteria provided clinical testing

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