ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.42C>T (p.Leu14=)

dbSNP: rs2153916109
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002213036 SCV002369239 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2021-08-18 criteria provided, single submitter clinical testing

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