Submissions for variant NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu)

gnomAD frequency: 0.01088  dbSNP: rs61731376

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081047	SCV000112954	benign	not specified	2013-03-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311608	SCV000846410	benign	Inborn genetic diseases	2016-04-18	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Invitae	RCV000870669	SCV001012194	benign	Rubinstein-Taybi syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001682774	SCV001901270	benign	not provided	2018-08-21	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002504996	SCV002801168	likely benign	Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1	2022-04-21	criteria provided, single submitter	clinical testing
ITMI	RCV000081047	SCV000084753	not provided	not specified	2013-09-19	no assertion provided	reference population