Submissions for variant NM_004380.3(CREBBP):c.712G>C (p.Val238Leu)

dbSNP: rs146887252

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175777	SCV000227334	likely benign	not specified	2015-12-30	criteria provided, single submitter	clinical testing
Invitae	RCV000878810	SCV001021782	likely benign	Rubinstein-Taybi syndrome	2024-01-13	criteria provided, single submitter	clinical testing
Mendelics	RCV000989512	SCV001139925	likely benign	Rubinstein-Taybi syndrome due to CREBBP mutations	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001753580	SCV001986962	benign	not provided	2021-09-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372086	SCV002667926	benign	Inborn genetic diseases	2020-05-04	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Fulgent Genetics, Fulgent Genetics	RCV002485138	SCV002797405	likely benign	Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1	2021-08-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937585	SCV004754506	likely benign	CREBBP-related disorder	2021-07-16	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).