Submissions for variant NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val)

gnomAD frequency: 0.00020  dbSNP: rs144085805

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175367	SCV000226840	uncertain significance	not provided	2014-11-21	criteria provided, single submitter	clinical testing
Invitae	RCV000334229	SCV000759937	benign	Kleefstra syndrome 1	2023-12-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314606	SCV000847675	likely benign	Inborn genetic diseases	2018-03-21	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	RCV000175367	SCV001945857	benign	not provided	2020-03-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000175367	SCV004164075	benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	EHMT1: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003917626	SCV004742173	benign	EHMT1-related condition	2019-05-18	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).