ClinVar Miner

Variants in gene UCP3

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
4 0 124 63 17 194

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic uncertain significance likely benign benign total
UCP3-related disorder 0 91 49 3 143
not provided 0 29 24 15 66
not specified 0 35 5 2 42
Obesity 0 6 4 0 10
Inherited obesity 0 5 0 1 6
Obesity, severe, and type II diabetes 3 0 0 0 3
Morbid obesity 1 0 0 0 1
Short-rib thoracic dysplasia 13 with or without polydactyly 0 0 0 1 1
UCP3 POLYMORPHISM G/A 0 0 0 1 1
UCP3 POLYMORPHISM, EXON 6 SPLICE DONOR JUNCTION 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic uncertain significance likely benign benign total
PreventionGenetics, part of Exact Sciences 0 91 49 3 143
Labcorp Genetics (formerly Invitae), Labcorp 0 27 23 8 58
Ambry Genetics 0 30 2 0 32
Breakthrough Genomics, Breakthrough Genomics 0 1 1 11 13
Genetic Services Laboratory, University of Chicago 0 5 3 2 10
GeneDx 0 1 0 9 10
Fulgent Genetics, Fulgent Genetics 0 5 4 0 9
OMIM 4 0 0 2 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 0 1 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 2 3
Baylor Genetics 0 1 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 1

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