ClinVar Miner

Variants studied for Hereditary fructosuria

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
30 34 54 22 18 1 136

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALDOB 29 34 54 22 18 1 135
ANO5 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 45 5 13 0 64
Invitae 15 7 1 16 7 0 46
Counsyl 2 27 9 2 0 0 40
OMIM 15 0 0 0 0 0 15
Integrated Genetics/Laboratory Corporation of America 9 4 0 0 0 0 13
GeneReviews 7 0 0 0 0 0 7
Baylor Genetics 5 0 0 0 0 0 5
HFI Laboratory at Boston University,Boston University 4 0 0 0 0 0 4
DLE - Diagnosticos Laboratoriais Especializados 3 0 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 2 1 0 0 0 0 3
Myriad Women's Health, Inc. 3 0 0 0 0 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
Elsea Laboratory,Baylor College of Medicine 1 0 1 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.