ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4311A>C (p.Ala1437=)

gnomAD frequency: 0.00150  dbSNP: rs150941761
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002520056 SCV000770217 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001672613 SCV001886657 benign not provided 2019-05-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001672613 SCV004153122 benign not provided 2024-07-01 criteria provided, single submitter clinical testing EP300: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001672613 SCV005278908 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003972440 SCV004798082 benign EP300-related disorder 2019-05-02 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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