Submissions for variant NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln)

gnomAD frequency: 0.00092  dbSNP: rs144871446

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178366	SCV000230435	likely benign	not specified	2014-06-05	criteria provided, single submitter	clinical testing
Invitae	RCV000398505	SCV000636627	likely benign	Kleefstra syndrome 1	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314643	SCV000849051	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: 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.
Mendelics	RCV000398505	SCV001137982	likely benign	Kleefstra syndrome 1	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001706141	SCV001855563	benign	not provided	2018-10-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706141	SCV004032915	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	EHMT1: BP4, BS1