ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.591+18del

gnomAD frequency: 0.00807  dbSNP: rs200848663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601333 SCV000714265 benign not specified 2017-01-17 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 RCV002062183 SCV002409492 benign Primary dilated cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing

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