Submissions for variant NM_004380.3(CREBBP):c.4251C>T (p.Tyr1417=)

gnomAD frequency: 0.00024  dbSNP: rs61731412

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002316848	SCV000850619	likely benign	Inborn genetic diseases	2017-04-20	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	RCV001868363	SCV002204510	likely benign	Rubinstein-Taybi syndrome	2021-11-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002507259	SCV002801765	likely benign	Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1	2021-12-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003953280	SCV004775425	likely benign	CREBBP-related disorder	2021-08-25	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).