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
21 29 32 10 2 1 86

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
ALDOB 20 29 32 10 2 1 85
ANO5 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 5 27 9 2 0 0 43
Illumina Clinical Services Laboratory,Illumina 1 0 23 8 2 0 34
OMIM 15 0 0 0 0 0 15
Integrated Genetics/Laboratory Corporation of America 7 2 0 0 0 0 9
Invitae 5 2 1 0 0 0 8
GeneReviews 7 0 0 0 0 0 7
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 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

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