Submissions for variant NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser)

gnomAD frequency: 0.00006  dbSNP: rs764006601

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000820474	SCV000961189	likely benign	Kleefstra syndrome 1	2023-12-21	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV000820474	SCV001429525	uncertain significance	Kleefstra syndrome 1	2017-11-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001528830	SCV002757081	uncertain significance	not provided	2022-05-23	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002537472	SCV003539450	likely benign	Inborn genetic diseases	2021-07-09	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528830	SCV001741241	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528830	SCV001975115	uncertain significance	not provided		no assertion criteria provided	clinical testing