Submissions for variant NM_001365276.2(TNXB):c.4562C>T (p.Ala1521Val)

gnomAD frequency: 0.00321  dbSNP: rs146120469

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000659047	SCV000780851	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	TNXB: BP4, BS2
GeneDx	RCV000659047	SCV001861935	benign	not provided	2020-11-24	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279476	SCV002566263	benign	Ehlers-Danlos syndrome	2022-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002334223	SCV002636124	likely benign	Cardiovascular phenotype	2021-06-15	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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000659047	SCV001809682	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000659047	SCV001930183	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000659047	SCV002038041	likely benign	not provided		no assertion criteria provided	clinical testing