ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.1195G>A (p.Val399Ile) (rs201222740)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620034 SCV000737113 likely benign Cardiovascular phenotype 2016-07-11 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;In silico models in agreement (benign);Other strong data supporting benign classification
Invitae RCV001437103 SCV001639949 likely benign Primary dilated cardiomyopathy 2020-08-14 criteria provided, single submitter clinical testing
GeneDx RCV001575610 SCV001802643 likely benign not provided 2020-12-03 no assertion criteria provided clinical testing

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