Submissions for variant NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu)

gnomAD frequency: 0.68787  dbSNP: rs1009382

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249012	SCV000313392	benign	not specified		criteria provided, single submitter	clinical testing
Mendelics	RCV000987673	SCV001137087	benign	Ehlers-Danlos syndrome due to tenascin-X deficiency	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001668566	SCV001884880	benign	not provided	2018-09-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000987673	SCV002098630	benign	Ehlers-Danlos syndrome due to tenascin-X deficiency	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001838603	SCV002098631	benign	Vesicoureteral reflux 8	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392774	SCV002674063	benign	Cardiovascular phenotype	2018-12-04	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000249012	SCV001739867	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000249012	SCV001808453	benign	not specified		no assertion criteria provided	clinical testing