Submissions for variant NM_001365276.2(TNXB):c.10673G>A (p.Arg3558His)

gnomAD frequency: 0.02004  dbSNP: rs41267126

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001572823	SCV001811591	likely benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002414273	SCV002723226	benign	Cardiovascular phenotype	2021-04-30	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.
PreventionGenetics, part of Exact Sciences	RCV003980706	SCV004792655	benign	TNXB-related disorder	2023-10-25	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572823	SCV001797797	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579579	SCV001807771	benign	not specified		no assertion criteria provided	clinical testing