Submissions for variant NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp)

gnomAD frequency: 0.00002  dbSNP: rs774653315

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002318055	SCV000849691	likely benign	Inborn genetic diseases	2017-06-01	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.
GeneDx	RCV000968912	SCV001987140	benign	not provided	2021-08-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001816775	SCV002071962	likely benign	not specified	2021-11-01	criteria provided, single submitter	clinical testing
Invitae	RCV002060926	SCV002465092	likely benign	Rubinstein-Taybi syndrome	2024-01-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002499315	SCV002805006	likely benign	Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1	2021-12-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003892587	SCV004714043	likely benign	CREBBP-related condition	2022-05-23	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).