Submissions for variant NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser)

gnomAD frequency: 0.00007  dbSNP: rs148023511

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153119	SCV000202579	uncertain significance	not provided	2013-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316965	SCV000850538	likely benign	Inborn genetic diseases	2017-11-30	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	RCV000764070	SCV000895024	uncertain significance	Rubinstein-Taybi syndrome due to CREBBP mutations	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003105799	SCV003782991	likely benign	Rubinstein-Taybi syndrome	2023-10-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004742280	SCV005349611	benign	CREBBP-related disorder	2024-03-11	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).