ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3143-9T>C

gnomAD frequency: 0.00083  dbSNP: rs199773872
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002540098 SCV001034892 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001655642 SCV001868689 benign not provided 2019-05-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975628 SCV004798430 benign EP300-related condition 2022-01-10 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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