ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter)

dbSNP: rs1596783639
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000856797 SCV000999360 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations criteria provided, single submitter clinical testing

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