ClinVar Miner

Submissions for variant NM_005373.2(MPL):c.962G>A (p.Arg321Gln) (rs149265851)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000121550 SCV000311032 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394143 SCV000357766 likely benign Thrombocythemia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284667 SCV000357767 likely benign Congenital amegakaryocytic thrombocytopenia 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000284667 SCV000790139 likely benign Congenital amegakaryocytic thrombocytopenia 2017-03-06 criteria provided, single submitter clinical testing
Invitae RCV000862461 SCV001002972 benign Congenital amegakaryocytic thrombocytopenia; essential thrombocytemia 2020-12-04 criteria provided, single submitter clinical testing
ITMI RCV000121550 SCV000085744 not provided not specified 2013-09-19 no assertion provided reference population

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.