Submissions for variant NM_024757.5(EHMT1):c.129A>T (p.Ala43=)

gnomAD frequency: 0.04476  dbSNP: rs76684726

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082215	SCV000114164	benign	not specified	2015-04-03	criteria provided, single submitter	clinical testing
Invitae	RCV000297721	SCV000636568	benign	Kleefstra syndrome 1	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311715	SCV000846620	benign	Inborn genetic diseases	2016-04-15	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	RCV001618258	SCV001845552	benign	not provided	2018-07-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082215	SCV000151070	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.