ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.396C>T (p.Leu132=)

gnomAD frequency: 0.00003  dbSNP: rs201840981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000904600 SCV001049123 benign X-linked severe combined immunodeficiency 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000904600 SCV001467117 likely benign X-linked severe combined immunodeficiency 2020-05-13 no assertion criteria provided clinical testing

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