ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser) (rs201503021)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458649 SCV000557816 likely benign Primary dilated cardiomyopathy 2019-11-13 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000458649 SCV000679917 uncertain significance Primary dilated cardiomyopathy 2017-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618863 SCV000736491 likely benign Cardiovascular phenotype 2019-12-08 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528560 SCV001740470 likely benign not provided no assertion criteria provided clinical testing
GeneDx RCV001528560 SCV001804069 likely benign not provided 2020-12-17 no assertion criteria provided clinical testing This variant is associated with the following publications: (PMID: 21247928)

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