ClinVar Miner

Variants studied for congenital generalized lipodystrophy type 1

Included ClinVar conditions (1):
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 likely risk allele uncertain risk allele not provided total
23 8 67 17 14 1 2 16 131

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
AGPAT2 23 8 67 17 14 1 2 16 131

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
Illumina Laboratory Services, Illumina 1 0 50 11 12 0 0 0 74
Fulgent Genetics, Fulgent Genetics 4 2 16 8 0 0 0 0 30
GeneReviews 1 0 0 0 0 0 0 16 17
OMIM 12 0 0 0 0 0 0 0 12
New York Genome Center 0 0 8 0 0 0 0 0 8
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 2 0 0 1 2 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 3 0 0 0 0 0 0 4
Mendelics 3 0 0 0 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 0 0 2
Laboratory of Metabolic Disorders, Peking University First Hospital 2 0 0 0 0 0 0 0 2
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 0 1
3billion 1 0 0 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 0 0 1

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