ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4232C>T (p.Thr1411Ile)

dbSNP: rs1601633708
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000825020 SCV000966214 likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2018-10-16 criteria provided, single submitter clinical testing

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