ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.318G>A (p.Pro106=)

gnomAD frequency: 0.00007  dbSNP: rs370001905
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000867833 SCV001009101 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-03-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411849 SCV004127906 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing MPL: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003411849 SCV005256091 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001275184 SCV001460037 uncertain significance Congenital amegakaryocytic thrombocytopenia 2020-02-13 no assertion criteria provided clinical testing

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