ClinVar Miner

Submissions for variant NM_012433.3(SF3B1):c.1998G>T (p.Lys666Asn) (rs377023736)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hospital of the University of Pennsylvania,Center for Personalized Diagnostics RCV000203465 SCV000258464 pathogenic Myelodysplastic syndrome progressed to acute myeloid leukemia 2016-01-08 criteria provided, single submitter clinical testing A mutation that is commonly seen in myelodysplasia with ring sideroblasts. It affects 3'-splice site recognition during pre-mRNA processing.
Database of Curated Mutations (DoCM) RCV000431140 SCV000504636 not provided Myelodysplastic syndrome 2016-03-10 no assertion provided literature only
Database of Curated Mutations (DoCM) RCV000441310 SCV000504637 likely pathogenic Acute myeloid leukemia 2014-10-02 no assertion criteria provided literature only

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