ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.3856C>T (p.Gln1286Ter)

dbSNP: rs2011901554
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Center for Mendelian Genomics, University of Washington RCV001261775 SCV001439091 likely pathogenic Rubinstein Taybi like syndrome no assertion criteria provided research

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