Submissions for variant NM_006440.5(TXNRD2):c.1137G>C (p.Val379=)

gnomAD frequency: 0.00020  dbSNP: rs184640901

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001529510	SCV000718975	likely benign	not provided	2021-04-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000622185	SCV000735282	likely benign	Cardiovascular phenotype	2016-01-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Invitae	RCV000628820	SCV000749727	benign	Primary dilated cardiomyopathy	2023-12-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003953033	SCV004766994	likely benign	TXNRD2-related condition	2019-10-28	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529510	SCV001743088	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529510	SCV001974516	likely benign	not provided		no assertion criteria provided	clinical testing