Submissions for variant NM_006440.5(TXNRD2):c.110A>T (p.Gln37Leu)

gnomAD frequency: 0.00150  dbSNP: rs148092370

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226062	SCV000289535	benign	Primary dilated cardiomyopathy	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000245207	SCV000318812	benign	Cardiovascular phenotype	2016-06-15	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
GeneDx	RCV000422509	SCV000528231	benign	not specified	2017-07-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Fulgent Genetics, Fulgent Genetics	RCV002494652	SCV002801598	benign	Glucocorticoid deficiency 5	2021-10-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004712177	SCV005275340	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003919970	SCV004734828	benign	TXNRD2-related disorder	2020-03-11	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).