ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.5527dup (p.Gln1843fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province RCV003219189 SCV003915596 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2020-11-23 criteria provided, single submitter clinical testing

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