ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.949+238C>T

gnomAD frequency: 0.00011  dbSNP: rs529169039
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001544611 SCV001763779 likely benign not provided 2020-10-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001544611 SCV005208972 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004753362 SCV005353172 benign TXNRD2-related disorder 2024-09-04 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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