ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1150G>A (p.Gly384Ser) (rs192869629)

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Total submissions: 4
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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 General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
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 2020-12-08 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528755 SCV001741049 likely benign not provided no assertion criteria provided clinical testing

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