ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2019T>C (p.Pro673=)

gnomAD frequency: 0.01054  dbSNP: rs2230110
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145950 SCV000193089 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2013-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000145950 SCV001091622 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001711404 SCV001941174 benign not provided 2020-09-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975147 SCV004799027 benign EP300-related disorder 2019-05-15 no assertion criteria provided 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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