Submissions for variant NM_004380.3(CREBBP):c.2973C>T (p.Asp991=)

gnomAD frequency: 0.00233  dbSNP: rs142528559

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081044	SCV000112951	benign	not specified	2013-06-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081044	SCV000192854	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313772	SCV000848419	likely benign	Inborn genetic diseases	2016-11-08	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.
Invitae	RCV000871211	SCV001012822	benign	Rubinstein-Taybi syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001711191	SCV001943544	benign	not provided	2018-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001711191	SCV002497876	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	CREBBP: BP4, BP7, BS1
Fulgent Genetics, Fulgent Genetics	RCV002504995	SCV002805053	benign	Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1	2021-07-20	criteria provided, single submitter	clinical testing