ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.173C>T (p.Ala58Val)

gnomAD frequency: 0.00005  dbSNP: rs6087
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003153643 SCV000553463 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481475 SCV002791532 uncertain significance Congenital amegakaryocytic thrombocytopenia; Primary myelofibrosis; Thrombocythemia 2 2021-12-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272210 SCV001453968 uncertain significance Congenital amegakaryocytic thrombocytopenia 2020-09-16 no assertion criteria provided clinical testing

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