Submissions for variant NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=)

gnomAD frequency: 0.10540  dbSNP: rs35943616

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082227	SCV000114176	benign	not specified	2014-05-21	criteria provided, single submitter	clinical testing
Invitae	RCV000283812	SCV000636597	benign	Kleefstra syndrome 1	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311717	SCV000845874	benign	Inborn genetic diseases	2016-03-16	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	RCV001711259	SCV001943660	benign	not provided	2018-07-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082227	SCV000151076	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.