ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.962G>A (p.Arg321Gln)

gnomAD frequency: 0.00072  dbSNP: rs149265851
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001689669 SCV005256158 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000121550 SCV002069480 benign not specified 2017-09-28 criteria provided, single submitter clinical testing
GeneDx RCV001689669 SCV001909561 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000862461 SCV001002972 benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2025-02-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284667 SCV000357767 likely benign Congenital amegakaryocytic thrombocytopenia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394143 SCV000357766 likely benign Thrombocythemia 1 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000121550 SCV000311032 benign not specified criteria provided, single submitter clinical testing
Counsyl RCV005430166 SCV000790139 likely benign Congenital amegakaryocytic thrombocytopenia 1 2017-03-06 no assertion criteria provided clinical testing This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.
ITMI RCV000121550 SCV000085744 not provided not specified 2013-09-19 no assertion provided reference population

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