Submissions for variant NM_006440.5(TXNRD2):c.1150G>A (p.Gly384Ser)

dbSNP: rs192869629

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000253691	SCV000319169	benign	Cardiovascular phenotype	2015-05-15	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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	RCV000441585	SCV000530371	benign	not specified	2017-06-26	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.
Invitae	RCV000470015	SCV000557809	benign	Primary dilated cardiomyopathy	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001528755	SCV004700286	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TXNRD2: BP4, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528755	SCV001741049	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001528755	SCV001928850	likely benign	not provided		no assertion criteria provided	clinical testing