Submissions for variant NM_004380.3(CREBBP):c.1149G>A (p.Pro383=)

gnomAD frequency: 0.00177  dbSNP: rs61759495

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081028	SCV000112935	benign	not specified	2013-05-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000145712	SCV000192830	uncertain significance	Rubinstein-Taybi syndrome due to CREBBP mutations	2013-02-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311602	SCV000847218	likely benign	Inborn genetic diseases	2016-07-15	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	RCV000872923	SCV001014817	benign	Rubinstein-Taybi syndrome	2025-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001610371	SCV001840546	benign	not provided	2019-03-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001610371	SCV004033452	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	CREBBP: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences	RCV003974969	SCV004799642	benign	CREBBP-related disorder	2019-04-18	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).