Submissions for variant NM_024757.5(EHMT1):c.2040G>A (p.Ser680=)

gnomAD frequency: 0.00146  dbSNP: rs150451099

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153193	SCV000202664	benign	not specified	2014-01-23	criteria provided, single submitter	clinical testing
Invitae	RCV000528324	SCV000636580	benign	Kleefstra syndrome 1	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001618308	SCV001847227	benign	not provided	2019-02-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415647	SCV002718786	likely benign	Inborn genetic diseases	2017-06-22	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV001618308	SCV004164070	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	EHMT1: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences	RCV003927478	SCV004744093	benign	EHMT1-related condition	2019-05-15	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).