Submissions for variant NM_006440.5(TXNRD2):c.762C>T (p.Arg254=)

gnomAD frequency: 0.00101  dbSNP: rs180876642

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000539623	SCV000623498	likely benign	Primary dilated cardiomyopathy	2024-01-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001528965	SCV000720612	likely benign	not provided	2020-09-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619876	SCV000736735	likely benign	Cardiovascular phenotype	2017-01-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528965	SCV001741625	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528965	SCV001964013	likely benign	not provided		no assertion criteria provided	clinical testing