ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.327C>T (p.Val109=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003063001 SCV003450558 likely benign Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2022-10-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892209 SCV004715714 likely benign RAG2-related disorder 2021-04-26 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).

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