ClinVar Miner

Submissions for variant NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) (rs3213409)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000121262 SCV000513302 likely benign not specified 2016-04-14 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000121262 SCV000604052 likely benign not specified 2017-04-17 criteria provided, single submitter clinical testing
Invitae RCV000558788 SCV000638318 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
ITMI RCV000121262 SCV000085433 not provided not specified 2013-09-19 no assertion provided reference population
Database of Curated Mutations (DoCM) RCV000436031 SCV000505697 likely pathogenic Acute megakaryoblastic leukemia 2016-05-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418338 SCV000505698 likely pathogenic Lymphoblastic leukemia, acute, with lymphomatous features 2015-07-14 no assertion criteria provided literature only

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