ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.1520G>A (p.Arg507Gln)

gnomAD frequency: 0.00001  dbSNP: rs143969029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001267786 SCV004801169 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2024-03-14 criteria provided, single submitter research
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267786 SCV001424104 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2020-05-21 no assertion criteria provided clinical testing

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