ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.543T>C (p.Gly181=)

gnomAD frequency: 0.00819  dbSNP: rs17572791
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000275711 SCV000357758 likely benign Congenital amegakaryocytic thrombocytopenia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000331889 SCV000357759 likely benign Thrombocythemia 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000552215 SCV000629602 benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000275711 SCV001453975 benign Congenital amegakaryocytic thrombocytopenia 2020-09-16 no assertion criteria provided clinical testing

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