ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.786C>T (p.Ala262=)

gnomAD frequency: 0.00005  dbSNP: rs374370835
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000976996 SCV001124907 benign X-linked severe combined immunodeficiency 2024-01-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000976996 SCV002087217 likely benign X-linked severe combined immunodeficiency 2020-05-19 no assertion criteria provided clinical testing

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