Submissions for variant NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu)

gnomAD frequency: 0.00034  dbSNP: rs144949902

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725447	SCV000337015	uncertain significance	not provided	2015-11-06	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000374563	SCV000594520	uncertain significance	not specified	2015-09-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085933	SCV000636587	likely benign	Kleefstra syndrome 1	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000725447	SCV001907062	benign	not provided	2019-03-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002429220	SCV002741517	benign	Inborn genetic diseases	2019-05-12	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen	RCV000725447	SCV004164052	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	EHMT1: BP4
PreventionGenetics, part of Exact Sciences	RCV003909961	SCV004724496	likely benign	EHMT1-related disorder	2019-07-29	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).