Submissions for variant NM_001365276.2(TNXB):c.4209C>T (p.Thr1403=)

gnomAD frequency: 0.00047  dbSNP: rs148934769

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000998567	SCV001154697	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TNXB: BP4, BP7
GeneDx	RCV000998567	SCV001781897	likely benign	not provided	2021-03-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002327226	SCV002630690	likely benign	Cardiovascular phenotype	2019-06-07	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	RCV002505523	SCV002813622	likely benign	Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8	2022-01-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000998567	SCV005225633	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000998567	SCV001806874	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000998567	SCV001927816	likely benign	not provided		no assertion criteria provided	clinical testing