ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1488C>T (p.Thr496=)

gnomAD frequency: 0.00056  dbSNP: rs140091584
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001391694 SCV001593318 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-01-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132494 SCV003808906 uncertain significance not provided 2020-10-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545225 SCV004756846 likely benign MPL-related disorder 2023-05-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001836393 SCV002089518 likely benign Congenital amegakaryocytic thrombocytopenia 2019-10-23 no assertion criteria provided clinical testing

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