ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.5461C>A (p.Arg1821=)

gnomAD frequency: 0.00011  dbSNP: rs780579609
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001695706 SCV001911986 benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002538618 SCV003242803 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-06-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968483 SCV004785912 likely benign EP300-related disorder 2021-08-23 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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