Submissions for variant NM_006440.5(TXNRD2):c.957C>G (p.Val319=)

gnomAD frequency: 0.00024  dbSNP: rs371700934

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000246128	SCV000318566	likely benign	Cardiovascular phenotype	2019-08-20	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000554605	SCV000623499	likely benign	Primary dilated cardiomyopathy	2023-12-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001697695	SCV000719213	likely benign	not provided	2021-03-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004752814	SCV005353760	likely benign	TXNRD2-related disorder	2024-04-25	no assertion criteria provided	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).