ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.2988G>T (p.Leu996Phe)

dbSNP: rs1388654836
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336879 SCV001530391 uncertain significance Combined immunodeficiency due to partial RAG1 deficiency 2018-11-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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