ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6294A>G (p.Gln2098=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003147064 SCV003833471 uncertain significance not provided 2022-12-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946452 SCV004759910 likely benign EP300-related disorder 2023-11-11 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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