ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.7161T>C (p.Gly2387=)

gnomAD frequency: 0.00016  dbSNP: rs143148170
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002537586 SCV001050191 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-03-20 criteria provided, single submitter clinical testing
GeneDx RCV001564505 SCV001787682 likely benign not provided 2021-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932900 SCV004752467 likely benign EP300-related condition 2021-06-17 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).
Genetic Services Laboratory, University of Chicago RCV003151205 SCV003839473 likely benign not specified 2022-12-23 no assertion criteria provided clinical testing

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