Submissions for variant NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys)

gnomAD frequency: 0.00069  dbSNP: rs55790011

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000120598	SCV000192867	likely benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514521	SCV000609830	likely benign	not provided	2017-03-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000514521	SCV001909506	benign	not provided	2019-12-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28767323)
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055328	SCV002490788	benign	Rubinstein-Taybi syndrome	2025-01-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514521	SCV004140998	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	CREBBP: BS1
ITMI	RCV000120598	SCV000084756	not provided	not specified	2013-09-19	no assertion provided	reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000514521	SCV001741576	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000514521	SCV001968415	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935145	SCV004750516	likely benign	CREBBP-related disorder	2023-01-04	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).