Submissions for variant NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)

gnomAD frequency: 0.00030  dbSNP: rs587783504

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145768	SCV000192896	uncertain significance	Rubinstein-Taybi syndrome due to CREBBP mutations	2014-01-23	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000177560	SCV000229446	uncertain significance	not provided	2015-04-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000177560	SCV000968604	benign	not provided	2020-03-23	criteria provided, single submitter	clinical testing
Invitae	RCV001087896	SCV001019370	likely benign	Rubinstein-Taybi syndrome	2024-01-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354332	SCV002653411	likely benign	Inborn genetic diseases	2017-10-03	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.
CeGaT Center for Human Genetics Tuebingen	RCV000177560	SCV004144966	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	CREBBP: PP2, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003935243	SCV004754238	likely benign	CREBBP-related condition	2021-07-16	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).
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino	RCV002221200	SCV002498707	likely pathogenic	Tip-toe gait		no assertion criteria provided	clinical testing