ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1053C>T (p.Arg351=)

gnomAD frequency: 0.00001  dbSNP: rs753608517
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000871081 SCV001012680 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2023-12-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330980 SCV004038314 likely benign not specified 2023-08-07 criteria provided, single submitter clinical testing

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