ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.399G>A (p.Pro133=)

dbSNP: rs768283382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819584 SCV002072345 likely benign not specified 2019-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542584 SCV003519691 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-03-03 criteria provided, single submitter clinical testing

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