Submissions for variant NM_004380.3(CREBBP):c.879G>A (p.Val293=)

gnomAD frequency: 0.00041  dbSNP: rs144344016

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000533308	SCV000629380	likely benign	Rubinstein-Taybi syndrome	2023-11-06	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000728991	SCV000856621	benign	not specified	2017-09-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001644627	SCV001860107	benign	not provided	2020-07-21	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000728991	SCV002068826	likely benign	not specified	2021-07-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001644627	SCV002497878	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	CREBBP: BP4, BP7
Ambry Genetics	RCV002377024	SCV002687886	likely benign	Inborn genetic diseases	2019-12-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV002483375	SCV002802165	likely benign	Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1	2021-07-28	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001644627	SCV005217374	likely benign	not provided		criteria provided, single submitter	not provided