ClinVar Miner

Submissions for variant NM_000215.3(JAK3):c.187A>G (p.Ile63Val) (rs144405201)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239244 SCV000296885 uncertain significance not specified 2015-07-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341956 SCV000411128 uncertain significance Severe Combined Immune Deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000639640 SCV000761219 likely benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 2017-12-18 criteria provided, single submitter clinical testing

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