ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.51C>T (p.Pro17=)

gnomAD frequency: 0.00009  dbSNP: rs773483114
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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 RCV001395317 SCV001597024 likely benign X-linked severe combined immunodeficiency 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898384 SCV004717631 likely benign IL2RG-related disorder 2021-03-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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