ClinVar Miner

Variants studied for LIPE-related familial partial lipodystrophy

Included ClinVar conditions (1):
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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
3 3 4 0 0 8

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
LIPE, LOC101930071 3 2 2 6
LIPE 0 1 2 2

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 3 0 0 3
Baylor Genetics 0 1 2 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 1
Revvity Omics, Revvity 0 0 1 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 1
Mendelics 1 0 0 1

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