ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.762C>T (p.Arg254=) (rs180876642)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539623 SCV000623498 likely benign Primary dilated cardiomyopathy 2020-10-14 criteria provided, single submitter clinical testing
GeneDx RCV000606643 SCV000720612 likely benign not specified 2017-06-27 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.
Ambry Genetics RCV000619876 SCV000736735 likely benign Cardiovascular phenotype 2017-01-04 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528965 SCV001741625 likely benign not provided no assertion criteria provided clinical testing

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