Submissions for variant NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=)

gnomAD frequency: 0.00014  dbSNP: rs374969185

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145776	SCV000192907	likely benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000724357	SCV000229450	uncertain significance	not provided	2014-12-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724357	SCV001247645	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	CREBBP: BP4, BP7
Invitae	RCV002055884	SCV002411572	benign	Rubinstein-Taybi syndrome	2023-11-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354333	SCV002659934	likely benign	Inborn genetic diseases	2020-08-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences	RCV003905261	SCV004723271	likely benign	CREBBP-related condition	2021-08-31	criteria provided, single submitter	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).