ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.741G>A (p.Val247=) (rs34092949)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127713 SCV000171292 benign not specified 2013-12-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000346294 SCV000371794 likely benign Severe Combined Immune Deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398353 SCV000371795 likely benign Histiocytic medullary reticulosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000550607 SCV000646381 benign Combined cellular and humoral immune defects with granulomas; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 2017-11-18 criteria provided, single submitter clinical testing

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