Submissions for variant NM_004380.3(CREBBP):c.2409C>T (p.Ser803=)

gnomAD frequency: 0.00050  dbSNP: rs139207930

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000596046	SCV000707724	likely benign	not specified	2017-04-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001584406	SCV001812509	likely benign	not provided	2020-12-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002448836	SCV002733722	likely benign	Inborn genetic diseases	2018-01-30	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	RCV002491218	SCV002803400	likely benign	Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1	2021-11-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002532587	SCV003500033	benign	Rubinstein-Taybi syndrome	2024-10-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001584406	SCV004140986	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	CREBBP: BP4, BP7, BS1