Submissions for variant NM_024757.5(EHMT1):c.480C>T (p.Gly160=)

gnomAD frequency: 0.00193  dbSNP: rs150135875

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153192	SCV000202663	benign	not specified	2014-01-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000153192	SCV000247282	benign	not specified	2016-01-11	criteria provided, single submitter	clinical testing
Invitae	RCV000278830	SCV000636622	benign	Kleefstra syndrome 1	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316966	SCV000849765	likely benign	Inborn genetic diseases	2016-10-28	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	RCV001706019	SCV001886614	benign	not provided	2019-09-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706019	SCV002585105	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	EHMT1: BP4, BP7, BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000278830	SCV004562940	benign	Kleefstra syndrome 1	2023-10-26	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000153192	SCV001955620	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001706019	SCV001965270	likely benign	not provided		no assertion criteria provided	clinical testing