ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4836dup (p.Val1613fs)

dbSNP: rs797045559
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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 RCV000194142 SCV000247296 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2014-12-16 criteria provided, single submitter clinical testing

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