ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1242G>A (p.Ser414=)

gnomAD frequency: 0.00001  dbSNP: rs544064034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001490490 SCV001695056 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2023-09-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533870 SCV004753277 likely benign MPL-related disorder 2019-06-10 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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