ClinVar Miner

Submissions for variant NM_000448.2(RAG1):c.2659G>A (p.Asp887Asn) (rs4151034)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000287102 SCV000371690 likely benign Histiocytic medullary reticulosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341833 SCV000371691 likely benign Severe Combined Immune Deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000532748 SCV000646371 benign Combined cellular and humoral immune defects with granulomas; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 2017-12-26 criteria provided, single submitter clinical testing

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