ClinVar Miner

Submissions for variant NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) (rs121913615)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501989 SCV000595823 pathogenic Congenital amegakaryocytic thrombocytopenia 2016-10-14 criteria provided, single submitter clinical testing
OMIM RCV000015227 SCV000035485 pathogenic Myelofibrosis with myeloid metaplasia 2006-11-15 no assertion criteria provided literature only
OMIM RCV000022668 SCV000043957 pathogenic Thrombocythemia 2, somatic 2006-11-15 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422740 SCV000505203 likely pathogenic Hematologic neoplasm 2014-12-26 no assertion criteria provided literature only

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