Submissions for variant NM_004380.3(CREBBP):c.753T>G (p.Thr251=)

dbSNP: rs142403441

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081073	SCV000112980	benign	not specified	2013-04-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001523570	SCV001733294	benign	Rubinstein-Taybi syndrome	2025-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001541503	SCV001759510	benign	not provided	2020-07-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390236	SCV002672044	likely benign	Inborn genetic diseases	2017-09-29	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	RCV002490711	SCV002798525	likely benign	Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1	2021-10-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915072	SCV004735913	likely benign	CREBBP-related disorder	2021-06-23	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).