Submissions for variant NM_001429.4(EP300):c.1519A>G (p.Ser507Gly)

gnomAD frequency: 0.00070  dbSNP: rs146242251

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002514630	SCV001091513	benign	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	2025-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001537538	SCV001754431	likely benign	not provided	2021-01-13	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498560	SCV002805158	likely benign	Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2	2021-08-23	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001537538	SCV005206512	likely benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000120734	SCV000084897	not provided	not specified	2013-09-19	no assertion provided	reference population
PreventionGenetics, part of Exact Sciences	RCV003925181	SCV004746181	benign	EP300-related disorder	2023-11-22	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).