Submissions for variant NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser)

dbSNP: rs143247685

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000120591	SCV000202576	benign	not specified	2014-01-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316339	SCV000849467	likely benign	Inborn genetic diseases	2017-05-02	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.
GeneDx	RCV001557193	SCV001778912	likely benign	not provided	2021-04-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24728327)
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055327	SCV002414401	likely benign	Rubinstein-Taybi syndrome	2024-10-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001557193	SCV004140982	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	CREBBP: PP2, BP4, BS1
ITMI	RCV000120591	SCV000084745	not provided	not specified	2013-09-19	no assertion provided	reference population
PreventionGenetics, part of Exact Sciences	RCV003935143	SCV004754494	likely benign	CREBBP-related disorder	2021-07-16	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).