ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.1320A>C (p.Lys440Asn)

dbSNP: rs754413772
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer RCV000681593 SCV000693941 likely pathogenic Histiocytic medullary reticulosis; Recombinase activating gene 2 deficiency; Inborn error of immunity 2018-03-06 criteria provided, single submitter research

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