Submissions for variant NM_004380.3(CREBBP):c.2811G>A (p.Pro937=)

gnomAD frequency: 0.00029  dbSNP: rs146168040

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081041	SCV000112948	uncertain significance	not provided	2015-04-08	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001815180	SCV000192851	benign	not specified	2021-06-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311605	SCV000846956	likely benign	Inborn genetic diseases	2016-04-07	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	RCV001085008	SCV001013133	likely benign	Rubinstein-Taybi syndrome	2024-01-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000081041	SCV001867847	benign	not provided	2020-10-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000081041	SCV004140980	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	CREBBP: BP4, BP7, BS1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000081041	SCV001742065	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000081041	SCV001972025	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003974971	SCV004797820	likely benign	CREBBP-related disorder	2021-09-09	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).