ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1385G>C (p.Arg462Pro)

gnomAD frequency: 0.00004  dbSNP: rs1175548872
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002264882 SCV002546498 uncertain significance Congenital amegakaryocytic thrombocytopenia criteria provided, single submitter clinical testing

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