ClinVar Miner

Submissions for variant NM_003356.4(UCP3):c.304G>A (p.Val102Ile)

gnomAD frequency: 0.03989  dbSNP: rs2229707
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002054426 SCV002372275 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
OMIM RCV000008012 SCV000028217 benign UCP3 POLYMORPHISM G/A 1998-10-01 no assertion criteria provided literature only
OMIM RCV000008013 SCV000028218 pathogenic Obesity, severe, and type II diabetes 1998-10-01 no assertion criteria provided literature only

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