ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.526G>C (p.Glu176Gln) (rs61736929)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440998 SCV000527898 benign not specified 2016-10-19 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 RCV000461588 SCV000557811 benign Primary dilated cardiomyopathy 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620550 SCV000735181 benign Cardiovascular phenotype 2015-06-25 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.

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