ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.1955A>C (p.His652Pro)

dbSNP: rs587783468
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145721 SCV000192840 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2013-11-27 criteria provided, single submitter clinical testing

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