ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.494T>G (p.Leu165Arg)

gnomAD frequency: 0.00002  dbSNP: rs758693125
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000941522 SCV001087410 benign X-linked severe combined immunodeficiency 2023-11-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438607 SCV004165332 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing IL2RG: BS2
Natera, Inc. RCV000941522 SCV002087227 likely benign X-linked severe combined immunodeficiency 2021-02-02 no assertion criteria provided clinical testing

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