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: 5
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000552215 SCV000629602 benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710787 SCV005256124 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000275711 SCV001453975 benign Congenital amegakaryocytic thrombocytopenia 2020-09-16 no assertion criteria provided clinical testing

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