ClinVar Miner

Submissions for variant NM_003356.4(UCP3):c.824+1G>A

gnomAD frequency: 0.02748  dbSNP: rs45476292
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000960111 SCV001107059 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000960111 SCV001831147 benign not provided 2019-10-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 9769326, 25525159, 22344438, 10618503)
Breakthrough Genomics, Breakthrough Genomics RCV000960111 SCV005235124 benign not provided criteria provided, single submitter not provided
OMIM RCV000008015 SCV000028220 benign UCP3 POLYMORPHISM, EXON 6 SPLICE DONOR JUNCTION 1998-10-01 no assertion criteria provided literature only
OMIM RCV000008016 SCV000028221 pathogenic Morbid obesity 1998-10-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003974805 SCV004798052 benign UCP3-related disorder 2019-04-29 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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