ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.677C>A (p.Ser226Tyr)

gnomAD frequency: 0.00183  dbSNP: rs141063159
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633171 SCV000754386 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-11-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821791 SCV002069469 likely benign not specified 2021-07-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711246 SCV005256146 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001272213 SCV001453977 likely benign Congenital amegakaryocytic thrombocytopenia 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004533311 SCV004725456 likely benign MPL-related disorder 2019-06-24 no assertion criteria provided 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).

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