ClinVar Miner

Submissions for variant NM_005373.2(MPL):c.1794C>T (p.Cys598=) (rs143457144)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000245469 SCV000595820 likely benign not specified 2016-05-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305922 SCV000357796 likely benign Essential thrombocythemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360549 SCV000357797 likely benign Congenital amegakaryocytic thrombocytopenia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000633170 SCV000754385 benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000245469 SCV000311027 likely benign not specified criteria provided, single submitter clinical testing

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