ClinVar Miner

Submissions for variant NM_004972.3(JAK2):c.2047A>G (p.Arg683Gly) (rs1057519721)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000434785 SCV000504353 pathogenic Lymphoblastic leukemia, acute, with lymphomatous features 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443966 SCV000504354 likely pathogenic Myeloproliferative disorder 2016-05-13 no assertion criteria provided literature only

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