ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1303T>A (p.Trp435Arg)

dbSNP: rs1553128241
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501453 SCV000595826 likely pathogenic Congenital amegakaryocytic thrombocytopenia 2017-04-25 criteria provided, single submitter clinical testing

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