ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.237G>C (p.Leu79=)

gnomAD frequency: 0.00001  dbSNP: rs769101640
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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 RCV001434041 SCV001636842 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2023-04-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275183 SCV001460036 uncertain significance Congenital amegakaryocytic thrombocytopenia 2020-02-13 no assertion criteria provided clinical testing

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