ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.475C>G (p.Pro159Ala)

dbSNP: rs1647014633
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330056 SCV001521649 uncertain significance Congenital amegakaryocytic thrombocytopenia 2020-07-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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