Submissions for variant NM_001365276.2(TNXB):c.6303A>G (p.Leu2101=)

gnomAD frequency: 0.00012  dbSNP: rs761030884

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001592730	SCV001823300	likely benign	not provided	2020-06-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002276841	SCV002566294	uncertain significance	Ehlers-Danlos syndrome	2021-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002368621	SCV002660570	likely benign	Cardiovascular phenotype	2020-07-28	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.
Fulgent Genetics, Fulgent Genetics	RCV002501962	SCV002812623	likely benign	Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8	2022-03-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003948638	SCV004765809	likely benign	TNXB-related disorder	2019-11-25	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).