ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1536G>A (p.Leu512=)

gnomAD frequency: 0.00031  dbSNP: rs137990502
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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 RCV001499628 SCV001704394 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2025-01-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832653 SCV002089519 likely benign Congenital amegakaryocytic thrombocytopenia 2021-07-20 no assertion criteria provided clinical testing

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