ClinVar Miner

Submissions for variant NM_025265.4(TSEN2):c.66A>C (p.Pro22=)

gnomAD frequency: 0.00322  dbSNP: rs62637658
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000438914 SCV000195225 benign not specified 2019-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000888058 SCV000515060 likely benign not provided 2020-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000888058 SCV001031666 benign not provided 2025-01-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000888058 SCV005264550 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003927443 SCV004742930 benign TSEN2-related disorder 2019-03-05 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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