ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2645C>G (p.Pro882Arg)

gnomAD frequency: 0.00012  dbSNP: rs772707021
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252646 SCV002524015 benign See cases 2022-01-04 criteria provided, single submitter clinical testing ACMG classification criteria: BS1, BS2, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV003094161 SCV003237237 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-08-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933712 SCV004755040 likely benign EP300-related disorder 2023-01-04 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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