ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.2749C>T (p.Gln917Ter)

dbSNP: rs1850845029
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253457 SCV001429171 likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency 2017-01-01 criteria provided, single submitter clinical testing

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