ClinVar Miner

Submissions for variant NM_005373.2(MPL):c.340G>A (p.Val114Met) (rs12731981)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000121540 SCV000311029 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371334 SCV000357757 likely benign Congenital amegakaryocytic thrombocytopenia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000467700 SCV000563310 benign Congenital amegakaryocytic thrombocytopenia; essential thrombocytemia 2020-12-08 criteria provided, single submitter clinical testing
Counsyl RCV000371334 SCV000790144 likely benign Congenital amegakaryocytic thrombocytopenia 2017-03-06 criteria provided, single submitter clinical testing
GeneDx RCV001594849 SCV001829133 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 11133753, 21228398, 24728327, 20981092, 22995991)
ITMI RCV000121540 SCV000085734 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV000371334 SCV001453973 benign Congenital amegakaryocytic thrombocytopenia 2020-09-16 no assertion criteria provided clinical testing

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