ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.209C>T (p.Pro70Leu)

gnomAD frequency: 0.00021  dbSNP: rs61754776
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000121534 SCV000513644 likely benign not specified 2015-05-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000666995 SCV000791379 uncertain significance Congenital amegakaryocytic thrombocytopenia 2017-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517599 SCV003269074 likely benign Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 2024-11-12 criteria provided, single submitter clinical testing
ITMI RCV000121534 SCV000085728 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV000666995 SCV001460035 likely benign Congenital amegakaryocytic thrombocytopenia 2020-01-06 no assertion criteria provided clinical testing

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