Submissions for variant NM_001365276.2(TNXB):c.8132T>C (p.Ile2711Thr)

gnomAD frequency: 0.01025  dbSNP: rs28361051

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245257	SCV000313397	benign	not specified		criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000515001	SCV000610063	likely benign	not provided	2017-03-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000515001	SCV001869599	benign	not provided	2019-07-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000515001	SCV002497401	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TNXB: BP4, BS1, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278203	SCV002566337	benign	Ehlers-Danlos syndrome	2022-05-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418087	SCV002679499	benign	Cardiovascular phenotype	2018-12-17	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.