Variants studied for Fructose-biphosphatase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
24	7	56	16	17	1	110

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	24	7	56	16	17	1	110

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services,Illumina	0	0	41	3	8	0	52
Invitae	7	1	17	13	13	0	51
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
PerkinElmer Genomics	3	0	0	0	0	0	3
Centogene AG - the Rare Disease Company	3	0	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
Department of Molecular and Human Genetics, Baylor College of Medicine	1	0	0	0	0	0	1
Kasturba Medical College, Manipal, Manipal Academy of Higher Education	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

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