ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.269G>A (p.Arg90Gln)

dbSNP: rs766638870
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003894 SCV001161804 likely pathogenic Congenital amegakaryocytic thrombocytopenia no assertion criteria provided research

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