ClinVar Miner

Variants studied for Congenital generalized lipodystrophy type 1

Coded as:
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
27 1 4 0 0 30

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
AGPAT2 27 1 4 30

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance total
GeneReviews 17 0 0 17
OMIM 9 0 0 9
Baylor Genetics 1 0 1 2
Genetic Services Laboratory, University of Chicago 2 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 0 2 2
Laboratory of Metabolic Disorders,Peking University First Hospital 2 0 0 2
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 2 0 0 2
Institute of Human Genetics,Cologne University 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1

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