Submissions for variant NM_001365999.1(SZT2):c.2578G>A (p.Glu860Lys)

gnomAD frequency: 0.00936  dbSNP: rs143992266

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001082813	SCV000290130	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000227489	SCV000312489	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311355	SCV000846587	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	RCV001082813	SCV001834498	benign	not provided	2018-07-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003457656	SCV004180601	benign	Developmental and epileptic encephalopathy, 18	2023-04-11	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001082813	SCV001799419	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000227489	SCV001932444	benign	not specified		no assertion criteria provided	clinical testing