ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.328A>C (p.Met110Leu) (rs193922575)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030399 SCV000053068 likely pathogenic Severe combined immunodeficiency disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer RCV000681580 SCV000693928 uncertain significance Recombinase activating gene 2 deficiency; Primary immunodeficiency 2018-03-06 criteria provided, single submitter research

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