ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.586A>G (p.Ile196Val)

gnomAD frequency: 0.00009  dbSNP: rs148693910
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145959 SCV000193101 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2014-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000145959 SCV003250118 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2025-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430709 SCV004147978 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing EP300: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003430709 SCV005194489 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003927427 SCV004743199 likely benign EP300-related disorder 2021-09-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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