ClinVar Miner

Submissions for variant NM_000448.2(RAG1):c.189A>G (p.Pro63=) (rs34357808)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000378732 SCV000371660 likely benign Histiocytic medullary reticulosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265458 SCV000371661 likely benign Severe Combined Immune Deficiency 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030390 SCV000053059 likely benign Severe combined immunodeficiency disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Invitae RCV000556328 SCV000646367 benign Combined cellular and humoral immune defects with granulomas; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 2018-01-02 criteria provided, single submitter clinical testing

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