Submissions for variant NM_001365276.2(TNXB):c.9612C>T (p.Asp3204=)

gnomAD frequency: 0.00237  dbSNP: rs61746872

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001579536	SCV001818756	likely benign	not provided	2021-01-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001579536	SCV002497400	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	TNXB: BP4, BP7, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002276814	SCV002565199	likely benign	Ehlers-Danlos syndrome	2021-09-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002386471	SCV002695699	benign	Cardiovascular phenotype	2019-03-04	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV001579536	SCV001807604	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579536	SCV001927213	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579536	SCV001972089	likely benign	not provided		no assertion criteria provided	clinical testing