ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1514G>A (p.Ser505Asn)

dbSNP: rs121913614
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001543455 SCV001762033 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
OMIM RCV000015226 SCV000035484 pathogenic Thrombocythemia 2 2009-10-08 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425381 SCV000504800 likely pathogenic Primary myelofibrosis 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436519 SCV000504801 likely pathogenic Thrombocythemia 1 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418818 SCV000504802 likely pathogenic Myeloproliferative neoplasm 2014-10-02 no assertion criteria provided literature only

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