ClinVar Miner

Variants studied for Fructose-biphosphatase deficiency

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 not provided total
21 6 49 12 13 1 93

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 21 6 49 12 13 1 93

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 41 3 8 0 52
Invitae 6 1 9 9 11 0 36
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
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 3
Mendelics 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 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

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