ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.263G>A (p.Gly88Glu)

gnomAD frequency: 0.00001  dbSNP: rs587778516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852097 SCV000899638 likely pathogenic Thrombocytopenia 2019-02-01 criteria provided, single submitter research
ITMI RCV000121538 SCV000085732 not provided not specified 2013-09-19 no assertion provided reference population

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