Submissions for variant NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser)

gnomAD frequency: 0.00856  dbSNP: rs34704821

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116964	SCV000151082	benign	not specified	2016-05-04	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000116964	SCV000229190	benign	not specified	2014-05-23	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514021	SCV000610946	benign	not provided	2017-05-03	criteria provided, single submitter	clinical testing
Invitae	RCV000336184	SCV000636623	benign	Kleefstra syndrome 1	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312105	SCV000846678	benign	Inborn genetic diseases	2016-05-26	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000514021	SCV001842106	benign	not provided	2019-08-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000336184	SCV002798465	likely benign	Kleefstra syndrome 1	2021-08-24	criteria provided, single submitter	clinical testing