ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.827_828dup (p.Gly277fs)

dbSNP: rs797045502
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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 RCV000192380 SCV000247120 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2014-08-08 criteria provided, single submitter clinical testing

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