ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1197G>A (p.Arg399=)

gnomAD frequency: 0.00042  dbSNP: rs148945299
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001418738 SCV001620973 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2025-01-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819973 SCV002066702 likely benign not specified 2021-08-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277585 SCV001464547 uncertain significance Congenital amegakaryocytic thrombocytopenia 2020-08-28 no assertion criteria provided clinical testing

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