ClinVar Miner

Variants studied for Fructose-biphosphatase deficiency

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
46 22 66 157 22 1 290

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBP1 45 22 66 157 22 1 289
FBP1, FBP2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 30 4 25 154 17 0 230
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 1 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 1 3 1 0 1 0 6
Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 6 0 0 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 4 0 0 0 6
Mendelics 3 1 0 0 0 0 4
3billion 2 1 1 0 0 0 4
Revvity Omics, Revvity 3 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
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
Neuberg Centre For Genomic Medicine, NCGM 1 1 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
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 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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