Submissions for variant NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=)

gnomAD frequency: 0.00010  dbSNP: rs190121951

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002312487	SCV000847081	likely benign	Inborn genetic diseases	2016-07-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV001514646	SCV001722542	benign	Rubinstein-Taybi syndrome	2022-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000983912	SCV001752371	benign	not provided	2021-05-11	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002477654	SCV002796817	likely benign	Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1	2022-04-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907984	SCV004723217	likely benign	CREBBP-related condition	2023-02-24	criteria provided, single submitter	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).