ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.455-8A>G

gnomAD frequency: 0.00002  dbSNP: rs781649645
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000890375 SCV001034118 benign X-linked severe combined immunodeficiency 2023-10-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957936 SCV004774080 likely benign IL2RG-related disorder 2019-02-19 criteria provided, single submitter 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).
Natera, Inc. RCV000890375 SCV002087230 likely benign X-linked severe combined immunodeficiency 2020-12-10 no assertion criteria provided clinical testing

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