Submissions for variant NM_024757.5(EHMT1):c.576G>A (p.Pro192=)

gnomAD frequency: 0.00029  dbSNP: rs574514175

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192432	SCV000247283	uncertain significance	not specified	2015-04-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000399265	SCV000636624	likely benign	Kleefstra syndrome 1	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314813	SCV000847701	likely benign	Inborn genetic diseases	2016-08-25	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	RCV001706167	SCV001834123	benign	not provided	2019-11-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706167	SCV004164059	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	EHMT1: BP4, BP7