Submissions for variant NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)

gnomAD frequency: 0.00113  dbSNP: rs199990883

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081061	SCV000112968	benign	not specified	2014-04-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000145767	SCV000192895	uncertain significance	Rubinstein-Taybi syndrome due to CREBBP mutations	2013-02-08	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000081061	SCV000257959	benign	not specified	2015-06-05	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224624	SCV000281584	benign	not provided	2015-12-21	criteria provided, single submitter	clinical testing
Invitae	RCV001085724	SCV000754213	benign	Rubinstein-Taybi syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311611	SCV000846039	likely benign	Inborn genetic diseases	2018-01-10	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.
CeGaT Center for Human Genetics Tuebingen	RCV000224624	SCV000892451	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	CREBBP: PP2, BP4, BS1
GeneDx	RCV000224624	SCV001888925	benign	not provided	2019-10-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23891399, 27884173, 22591219)
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	RCV000081061	SCV001984302	benign	not specified	2020-03-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003982877	SCV004796146	benign	CREBBP-related disorder	2019-05-04	criteria provided, single submitter	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000224624	SCV002034967	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224624	SCV002036852	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000224624	SCV002038171	likely benign	not provided		no assertion criteria provided	clinical testing