Submissions for variant NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile)

dbSNP: rs140304758

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV001091808	SCV001248031	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	TNXB: BP4
GeneDx	RCV001091808	SCV001767374	uncertain significance	not provided	2024-05-20	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002276618	SCV002566313	uncertain significance	Ehlers-Danlos syndrome	2020-10-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002375015	SCV002667985	likely benign	Cardiovascular phenotype	2024-03-12	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.
Revvity Omics, Revvity	RCV003142037	SCV003827782	uncertain significance	Vesicoureteral reflux 8	2021-12-20	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001091808	SCV005188867	uncertain significance	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV001091808	SCV005412092	uncertain significance	not provided	2024-04-24	criteria provided, single submitter	clinical testing	BP4
Fulgent Genetics, Fulgent Genetics	RCV005036396	SCV005669504	uncertain significance	Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8	2024-01-26	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001091808	SCV001807435	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001091808	SCV001972819	likely benign	not provided		no assertion criteria provided	clinical testing