Submissions for variant NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met)

gnomAD frequency: 0.00013  dbSNP: rs200237137

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192837	SCV000247275	likely benign	not specified	2015-07-17	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000192837	SCV000702925	likely benign	not specified	2016-11-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000638418	SCV000759932	benign	Kleefstra syndrome 1	2023-12-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314811	SCV000849155	likely benign	Inborn genetic diseases	2017-04-17	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.
GeneDx	RCV001682909	SCV001899009	benign	not provided	2019-02-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001682909	SCV005330817	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	EHMT1: BS2