ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2656C>T (p.Pro886Ser)

gnomAD frequency: 0.00070  dbSNP: rs148308496
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002545994 SCV001091734 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001619864 SCV001842469 benign not provided 2019-09-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903153 SCV004718682 likely benign EP300-related disorder 2021-07-14 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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