ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2164dup (p.Gln722fs)

dbSNP: rs879253873
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000236044 SCV000292433 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2016-01-10 no assertion criteria provided clinical testing Rubinstein-Taybi phenotype

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