ClinVar Miner

Submissions for variant NM_000536.3(RAG2):c.1095T>C (p.Ser365=) (rs140519815)

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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 RCV000377795 SCV000371786 uncertain significance Severe Combined Immune Deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262415 SCV000371787 uncertain significance Histiocytic medullary reticulosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000645689 SCV000767440 benign Combined cellular and humoral immune defects with granulomas; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 2018-01-05 criteria provided, single submitter clinical testing

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