ClinVar Miner

Submissions for variant NM_003355.3(UCP2):c.156C>T (p.Arg52=)

gnomAD frequency: 0.00094  dbSNP: rs45524433
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194691 SCV000249364 uncertain significance not specified 2015-06-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005089989 SCV005728693 likely benign not provided 2024-05-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004755805 SCV005350617 likely benign UCP2-related disorder 2024-03-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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