ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1629T>C (p.Leu543=)

gnomAD frequency: 0.00004  dbSNP: rs150816330
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001506169 SCV001711084 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-09-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836425 SCV002089520 likely benign Congenital amegakaryocytic thrombocytopenia 2021-09-03 no assertion criteria provided clinical testing

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