ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000371334 SCV000790144 likely benign Congenital amegakaryocytic thrombocytopenia 2017-03-06 criteria provided, single submitter clinical testing
ITMI RCV000121540 SCV000085734 not provided not specified 2013-09-19 no assertion provided reference population
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 thrombocythemia 2017-06-07 criteria provided, single submitter clinical testing
PreventionGenetics RCV000121540 SCV000311029 benign not specified criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.