Submissions for variant NM_024757.5(EHMT1):c.432C>T (p.Ala144=)

dbSNP: rs139461232

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082238	SCV000114187	benign	not specified	2013-08-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082238	SCV000247281	likely benign	not specified	2015-06-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000284917	SCV000636620	benign	Kleefstra syndrome 1	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001705782	SCV001840534	benign	not provided	2018-08-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705782	SCV002498084	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	EHMT1: BP4, BP7, BS1
Ambry Genetics	RCV002326799	SCV002627867	likely benign	Inborn genetic diseases	2017-11-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences	RCV003925077	SCV004740853	benign	EHMT1-related disorder	2019-12-23	no assertion criteria provided	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).