ClinVar Miner

Submissions for variant NM_000448.2(RAG1):c.2459A>G (p.Lys820Arg) (rs2227973)

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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 RCV000385043 SCV000371686 benign Histiocytic medullary reticulosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290555 SCV000371687 benign Severe Combined Immune Deficiency 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000245314 SCV000540148 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency - papers in HGMD do not provide evidence of disease association
PreventionGenetics RCV000245314 SCV000304366 benign not specified criteria provided, single submitter clinical testing

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