Submissions for variant NM_001429.4(EP300):c.6481A>G (p.Met2161Val)

gnomAD frequency: 0.00037  dbSNP: rs188035979

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000120718	SCV000193104	likely benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002517585	SCV001092354	benign	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	2024-12-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001554913	SCV001776246	likely benign	not provided	2020-01-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498559	SCV002807650	likely benign	Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2	2021-09-29	criteria provided, single submitter	clinical testing
ITMI	RCV000120718	SCV000084880	not provided	not specified	2013-09-19	no assertion provided	reference population
PreventionGenetics, part of Exact Sciences	RCV003905147	SCV004726578	benign	EP300-related disorder	2019-08-09	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).