ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del) (rs875989807)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics,University of Leuven RCV000211093 SCV000268073 likely pathogenic Rubinstein-Taybi syndrome 2 2015-01-01 criteria provided, single submitter literature only

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