ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1794C>T (p.Cys598=)

gnomAD frequency: 0.00025  dbSNP: rs143457144
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245469 SCV000311027 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305922 SCV000357796 likely benign Thrombocythemia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360549 SCV000357797 likely benign Congenital amegakaryocytic thrombocytopenia 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000245469 SCV000595820 likely benign not specified 2016-05-06 criteria provided, single submitter clinical testing
Invitae RCV000633170 SCV000754385 benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003409376 SCV004123658 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing MPL: BP4, BP7

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