Submissions for variant NM_006440.5(TXNRD2):c.1224G>C (p.Val408=)

gnomAD frequency: 0.00009  dbSNP: rs375650172

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001528506	SCV001830547	likely benign	not provided	2021-03-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002070344	SCV002461434	likely benign	Primary dilated cardiomyopathy	2023-10-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002368556	SCV002659271	likely benign	Cardiovascular phenotype	2021-12-06	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	RCV001528506	SCV001740352	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528506	SCV001972673	likely benign	not provided		no assertion criteria provided	clinical testing