ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.117G>T (p.Lys39Asn)

gnomAD frequency: 0.01420  dbSNP: rs17292650
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000359577 SCV000357751 likely benign Thrombocythemia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400040 SCV000357752 likely benign Congenital amegakaryocytic thrombocytopenia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000542206 SCV000629598 benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-01-31 criteria provided, single submitter clinical testing
Counsyl RCV000400040 SCV000800805 likely benign Congenital amegakaryocytic thrombocytopenia 2018-02-28 criteria provided, single submitter clinical testing
GeneDx RCV001668127 SCV001882186 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26568271, 15269348, 25525159, 24728327, 23511495, 24123366, 23103231)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000121535 SCV002050967 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
OMIM RCV000015225 SCV000035483 risk factor Thrombocythemia 2 2004-08-03 no assertion criteria provided literature only
ITMI RCV000121535 SCV000085729 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV000400040 SCV001460034 benign Congenital amegakaryocytic thrombocytopenia 2020-01-07 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001668127 SCV002034221 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001668127 SCV002036991 likely benign not provided no assertion criteria provided clinical testing

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