Submissions for variant NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met)

gnomAD frequency: 0.00183  dbSNP: rs33999936

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082228	SCV000114177	benign	not specified	2012-12-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082228	SCV000247274	likely benign	not specified	2015-06-29	criteria provided, single submitter	clinical testing
Invitae	RCV000550854	SCV000636599	benign	Kleefstra syndrome 1	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313824	SCV000847960	likely benign	Inborn genetic diseases	2018-07-24	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.
GeneDx	RCV001689631	SCV001907680	benign	not provided	2018-10-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952527	SCV004783005	benign	EHMT1-related condition	2019-08-20	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).