ClinVar Miner

Submissions for variant NM_002227.4(JAK1):c.1972G>T (p.Val658Phe)

dbSNP: rs1057519753
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000429980 SCV000504803 likely pathogenic Acquired polycythemia vera 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440192 SCV000504804 likely pathogenic Lymphoblastic leukemia, acute, with lymphomatous features 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419919 SCV000504805 likely pathogenic Leukemia, acute, X-linked 2016-05-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430797 SCV000504806 likely pathogenic Acute myeloid leukemia 2014-10-02 no assertion criteria provided literature only

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