Submissions for variant NM_004380.3(CREBBP):c.293G>T (p.Gly98Val)

gnomAD frequency: 0.00206  dbSNP: rs141982003

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000120600	SCV000701762	benign	not specified	2016-10-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312540	SCV000846792	benign	Inborn genetic diseases	2016-06-06	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000877781	SCV001020567	benign	Rubinstein-Taybi syndrome	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001682831	SCV001896485	benign	not provided	2020-02-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001682831	SCV004141000	benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	CREBBP: BS1, BS2
ITMI	RCV000120600	SCV000084758	not provided	not specified	2013-09-19	no assertion provided	reference population