Submissions for variant NM_004380.3(CREBBP):c.2616G>A (p.Thr872=)

gnomAD frequency: 0.00030  dbSNP: rs781112420

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001712214	SCV000518846	benign	not provided	2020-02-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002318408	SCV000849898	likely benign	Inborn genetic diseases	2017-05-31	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002064944	SCV002342457	benign	Rubinstein-Taybi syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002506026	SCV002805831	likely benign	Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1	2021-12-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902505	SCV004722904	likely benign	CREBBP-related disorder	2021-06-28	no assertion criteria provided	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).