ClinVar Miner

Submissions for variant NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) (rs3212723)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000121269 SCV000168891 benign not specified 2013-01-18 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 RCV000281289 SCV000411124 likely benign Severe Combined Immune Deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000550265 SCV000638326 benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 2017-07-11 criteria provided, single submitter clinical testing
ITMI RCV000121269 SCV000085440 not provided not specified 2013-09-19 no assertion provided reference population
Database of Curated Mutations (DoCM) RCV000433061 SCV000504895 likely pathogenic Lymphoblastic leukemia, acute, with lymphomatous features 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442628 SCV000510432 likely pathogenic Acute megakaryoblastic leukemia 2016-05-13 no assertion criteria provided literature only

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