ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.5454G>C (p.Leu1818=)

gnomAD frequency: 0.00010  dbSNP: rs148026063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002540085 SCV001033509 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940650 SCV004749574 likely benign EP300-related condition 2022-06-03 criteria provided, single submitter 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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