Submissions for variant NM_130839.5(UBE3A):c.2618A>G (p.Ter873=)

gnomAD frequency: 0.00313  dbSNP: rs76794400

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082348	SCV000114311	benign	not specified	2012-12-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000082348	SCV000169704	benign	not specified	2012-02-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago	RCV000082348	SCV000195369	benign	not specified	2013-12-17	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000443306	SCV000511811	benign	not provided	2016-07-22	criteria provided, single submitter	clinical testing
Invitae	RCV000470827	SCV000559146	benign	Angelman syndrome	2024-01-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000082348	SCV000616227	benign	not specified	2017-06-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313829	SCV000847740	benign	Inborn genetic diseases	2016-06-21	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.
CeGaT Center for Human Genetics Tuebingen	RCV000443306	SCV002563227	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	UBE3A: BS2
PreventionGenetics, part of Exact Sciences	RCV003915104	SCV004734373	likely benign	UBE3A-related condition	2019-06-06	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000470827	SCV000733428	benign	Angelman syndrome		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000443306	SCV001932085	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082348	SCV001958722	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000082348	SCV001969995	benign	not specified		no assertion criteria provided	clinical testing