Submissions for variant NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser)

gnomAD frequency: 0.00017  dbSNP: rs139169188

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000595375	SCV000705671	uncertain significance	not provided	2017-01-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317338	SCV000849937	likely benign	Inborn genetic diseases	2018-01-31	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	RCV001485598	SCV001690036	likely benign	Rubinstein-Taybi syndrome	2023-11-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000595375	SCV001814077	likely benign	not provided	2020-10-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927923	SCV004750999	likely benign	CREBBP-related condition	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).