ClinVar Miner

Submissions for variant NM_003355.3(UCP2):c.227G>A (p.Arg76Gln)

gnomAD frequency: 0.00252  dbSNP: rs45541732
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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 RCV000504343 SCV000597824 benign not specified 2017-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000895120 SCV001039143 likely benign not provided 2023-06-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496960 SCV002807532 likely benign Body mass index quantitative trait locus 4 2021-08-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000895120 SCV005219477 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003925496 SCV004741553 benign UCP2-related disorder 2022-06-27 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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