ClinVar Miner

Submissions for variant NM_005373.2(MPL):c.1565+5C>T (rs41269541)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000122424 SCV000248071 likely benign not specified 2015-07-27 criteria provided, single submitter clinical testing
Invitae RCV000232182 SCV000288884 benign Congenital amegakaryocytic thrombocytopenia; essential thrombocytemia 2020-12-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000122424 SCV000311025 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282111 SCV000357784 likely benign Thrombocythemia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337044 SCV000357785 likely benign Congenital amegakaryocytic thrombocytopenia 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000337044 SCV000791933 uncertain significance Congenital amegakaryocytic thrombocytopenia 2017-05-31 criteria provided, single submitter clinical testing
ITMI RCV000122424 SCV000083975 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV000337044 SCV001453983 benign Congenital amegakaryocytic thrombocytopenia 2020-09-16 no assertion criteria provided clinical testing

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