Submissions for variant NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr)

gnomAD frequency: 0.00051  dbSNP: rs148781922

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000120601	SCV000334126	benign	not specified	2015-08-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001697046	SCV000719222	likely benign	not provided	2021-05-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24728327)
Ambry Genetics	RCV002316341	SCV000849458	likely benign	Inborn genetic diseases	2018-09-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000871321	SCV001012954	benign	Rubinstein-Taybi syndrome	2025-01-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001697046	SCV004140994	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	CREBBP: PP2, BP4, BS1
ITMI	RCV000120601	SCV000084759	not provided	not specified	2013-09-19	no assertion provided	reference population
PreventionGenetics, part of Exact Sciences	RCV003905144	SCV004720515	benign	CREBBP-related disorder	2022-07-26	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).