ClinVar Miner

Submissions for variant NM_000215.4(JAK3):c.1715C>T (p.Ala572Val)

dbSNP: rs121913504
Minimum review status: Collection method:
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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) RCV000439577 SCV000504893 likely pathogenic Myeloproliferative neoplasm 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422353 SCV000504894 likely pathogenic Acute megakaryoblastic leukemia 2016-05-13 no assertion criteria provided literature only

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