Submissions for variant NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=)

gnomAD frequency: 0.00267  dbSNP: rs148904096

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000593890	SCV000704087	benign	not specified	2016-12-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317337	SCV000850240	likely benign	Inborn genetic diseases	2016-10-03	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	RCV000872416	SCV001014223	benign	Rubinstein-Taybi syndrome	2023-12-17	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002476298	SCV002798872	likely benign	Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1	2021-08-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004705677	SCV005217355	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003980084	SCV004799255	benign	CREBBP-related disorder	2020-10-10	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).