Submissions for variant NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)

dbSNP: rs533875300

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000394928	SCV000438889	likely benign	Rubinstein-Taybi syndrome due to CREBBP mutations	2016-06-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514498	SCV000609687	likely benign	not provided	2017-08-24	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000120717	SCV000702442	likely benign	not specified	2016-11-08	criteria provided, single submitter	clinical testing
Invitae	RCV001027440	SCV001098111	benign	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	2024-01-28	criteria provided, single submitter	clinical testing
Mendelics	RCV000394928	SCV001141448	likely benign	Rubinstein-Taybi syndrome due to CREBBP mutations	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000514498	SCV001908433	benign	not provided	2018-11-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24728327, 27416986, 26960974)
CeGaT Center for Human Genetics Tuebingen	RCV000514498	SCV004033954	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	EP300: PM4:Supporting, BS1
PreventionGenetics, part of Exact Sciences	RCV003912440	SCV004730590	likely benign	EP300-related disorder	2019-05-15	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).
Molecular Genetics, Royal Melbourne Hospital	RCV001027440	SCV004812448	likely benign	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	2023-05-04	criteria provided, single submitter	clinical testing	European Non-Finnish population allele frequency is 0.3034% (rs533875300, 430/128992 alleles, 0 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.4.0, this variant is classified as LIKELY BENIGN. Following criteria are met: BS1
ITMI	RCV000120717	SCV000084879	not provided	not specified	2013-09-19	no assertion provided	reference population
Wessex Regional Genetics Laboratory, Salisbury District Hospital	RCV001027440	SCV001189999	pathogenic	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	2019-11-05	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000514498	SCV002035076	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514498	SCV002035748	likely benign	not provided		no assertion criteria provided	clinical testing