ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.686G>C (p.Arg229Pro)

dbSNP: rs121917894
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331314 SCV001523331 likely pathogenic Combined immunodeficiency with skin granulomas 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003227962 SCV003924355 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2023-05-08 criteria provided, single submitter research

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