ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.816C>T (p.Gly272=) (rs144584524)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429582 SCV000535382 likely benign not specified 2018-03-14 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 RCV000460933 SCV000557805 benign Primary dilated cardiomyopathy 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619558 SCV000735919 likely benign Cardiovascular phenotype 2016-11-03 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification;Synonymous alterations with insufficient evidence to classify as benign
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528577 SCV001740523 likely benign not provided no assertion criteria provided clinical testing

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