ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.912C>T (p.His304=)

gnomAD frequency: 0.00010  dbSNP: rs145282692
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510730 SCV001717837 benign X-linked severe combined immunodeficiency 2023-10-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001510730 SCV002087214 likely benign X-linked severe combined immunodeficiency 2021-07-27 no assertion criteria provided clinical testing

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