Submissions for variant NM_006440.5(TXNRD2):c.1308C>T (p.Phe436=)

gnomAD frequency: 0.00031  dbSNP: rs190301927

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704336	SCV000528230	likely benign	not provided	2021-03-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000475026	SCV000557807	likely benign	Primary dilated cardiomyopathy	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621733	SCV000737254	likely benign	Cardiovascular phenotype	2017-04-07	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.
Breakthrough Genomics, Breakthrough Genomics	RCV001704336	SCV005208964	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001704336	SCV001978484	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001704336	SCV001980143	likely benign	not provided		no assertion criteria provided	clinical testing