ClinVar Miner

Submissions for variant NM_012433.3(SF3B1):c.2098A>G (p.Lys700Glu) (rs559063155)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001531943 SCV001747292 likely pathogenic not provided 2021-06-01 criteria provided, single submitter clinical testing
Database of Curated Mutations (DoCM) RCV000420863 SCV000504635 likely pathogenic Acute myeloid leukemia 2014-10-02 no assertion criteria provided literature only

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