ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4482A>G (p.Arg1494=)

gnomAD frequency: 0.00006  dbSNP: rs149471059
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502784 SCV000594553 likely benign not specified 2016-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005091093 SCV005798637 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2025-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902770 SCV004721470 likely benign EP300-related disorder 2019-08-05 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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