ClinVar Miner

Variants studied for Fructose-biphosphatase deficiency

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
43 16 63 151 22 1 274

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 not provided total
FBP1 43 16 63 151 22 1 274

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 27 2 25 148 17 0 219
Illumina Laboratory Services, Illumina 0 0 41 3 8 0 52
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 6 0 0 0 0 8
Genome-Nilou Lab 0 0 0 0 8 0 8
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 3 4 0 0 0 0 7
OMIM 6 0 0 0 0 0 6
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center 6 0 0 0 0 0 6
Mendelics 3 1 0 0 0 0 4
Revvity Omics, Revvity Omics 3 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
3billion 2 0 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 0 1 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1

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