ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.269+17G>A

gnomAD frequency: 0.00004  dbSNP: rs746420476
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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 RCV002074961 SCV002424425 benign X-linked severe combined immunodeficiency 2024-01-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714379 SCV005279464 benign not provided criteria provided, single submitter not provided

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