Submissions for variant NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser)

gnomAD frequency: 0.00004  dbSNP: rs749979249

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000731278	SCV000859075	uncertain significance	not provided	2018-01-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002493335	SCV002779413	uncertain significance	Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2	2021-07-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002535200	SCV003286857	benign	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	2022-05-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004027003	SCV004864319	likely benign	Inborn genetic diseases	2023-11-13	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.