Submissions for variant NM_006440.5(TXNRD2):c.1077C>T (p.Asp359=)

gnomAD frequency: 0.00021  dbSNP: rs147383232

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000470631	SCV000557815	benign	Primary dilated cardiomyopathy	2023-11-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001528345	SCV000723052	likely benign	not provided	2021-01-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619845	SCV000736148	likely benign	Cardiovascular phenotype	2017-03-20	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.
CeGaT Center for Human Genetics Tuebingen	RCV001528345	SCV004152125	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	TXNRD2: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528345	SCV001739948	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528345	SCV001970598	likely benign	not provided		no assertion criteria provided	clinical testing