ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.86-2A>C

dbSNP: rs587783515
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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 RCV000145783 SCV000192919 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2013-02-08 criteria provided, single submitter clinical testing

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