Submissions for variant NM_001365276.2(TNXB):c.8845C>A (p.Pro2949Thr)

dbSNP: rs149492184

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243088	SCV000313402	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001660340	SCV001873805	benign	not provided	2018-10-25	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278206	SCV002565173	benign	Ehlers-Danlos syndrome	2022-04-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374424	SCV002683886	benign	Cardiovascular phenotype	2019-02-12	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	RCV000243088	SCV001809129	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000243088	SCV001956658	benign	not specified		no assertion criteria provided	clinical testing