Submissions for variant NM_004380.3(CREBBP):c.2400G>A (p.Pro800=)

gnomAD frequency: 0.00003  dbSNP: rs756570921

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002542086	SCV001050192	likely benign	Rubinstein-Taybi syndrome	2022-08-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000905603	SCV001788060	likely benign	not provided	2020-04-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002454083	SCV002736087	likely benign	Inborn genetic diseases	2018-12-04	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	RCV002495478	SCV002798937	likely benign	Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1	2022-04-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003950651	SCV004765960	likely benign	CREBBP-related disorder	2022-03-02	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).