ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.953C>T (p.Ala318Val)

gnomAD frequency: 0.00002  dbSNP: rs370007902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000927082 SCV001072658 benign X-linked severe combined immunodeficiency 2024-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000927082 SCV002087213 likely benign X-linked severe combined immunodeficiency 2020-09-21 no assertion criteria provided clinical testing

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