Submissions for variant NM_024757.5(EHMT1):c.1368C>T (p.Leu456=)

gnomAD frequency: 0.07198  dbSNP: rs45450992

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082216	SCV000114165	benign	not specified	2012-07-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082216	SCV000314443	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311535	SCV000845893	benign	Inborn genetic diseases	2016-03-11	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.
Invitae	RCV001516154	SCV001724386	benign	Kleefstra syndrome 1	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001719805	SCV001948682	benign	not provided	2018-07-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082216	SCV000151071	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.