ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.5364C>T (p.Leu1788=)

gnomAD frequency: 0.00049  dbSNP: rs143551315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753923 SCV001986832 benign not provided 2021-07-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002539843 SCV002406109 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-10-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913359 SCV004736797 likely benign EP300-related disorder 2021-10-18 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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