ClinVar Miner

Submissions for variant NM_003355.3(UCP2):c.164C>T (p.Ala55Val)

gnomAD frequency: 0.43008  dbSNP: rs660339
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000118811 SCV000309574 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001682828 SCV001899086 benign not provided 2021-06-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23132673, 10557023, 19950601, 19368944, 10071761, 19653005, 25158045, 18956255, 21751002, 23537071, 19895332)
Labcorp Genetics (formerly Invitae), Labcorp RCV001682828 SCV002410790 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001682828 SCV005234662 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118811 SCV000153458 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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