ClinVar Miner

Submissions for variant NM_000206.3(IL2RG):c.857C>T (p.Thr286Met)

gnomAD frequency: 0.00014  dbSNP: rs767758983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001523301 SCV001732981 benign X-linked severe combined immunodeficiency 2023-03-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506639 SCV002813176 likely benign Combined immunodeficiency, X-linked; X-linked severe combined immunodeficiency 2021-08-09 criteria provided, single submitter clinical testing

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