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
77 100 86 243 26 9 460

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALDOB 73 100 86 243 26 9 456
ALDOB, LOC130002261 2 0 0 0 0 0 2
ALDOB, BAAT, GRIN3A, MRPL50, PGAP4, PPP3R2, RNF20, ZNF189 1 0 0 0 0 0 1
ANO5 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 52 16 25 232 10 0 335
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul 16 51 0 0 0 0 67
Illumina Laboratory Services, Illumina 1 0 45 5 13 0 64
Natera, Inc. 9 3 10 10 7 0 39
Counsyl 2 26 8 2 0 0 38
Baylor Genetics 24 11 0 0 0 0 35
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 7 0 0 0 0 20
Fulgent Genetics, Fulgent Genetics 5 2 10 0 0 0 17
OMIM 15 0 0 0 0 0 15
Myriad Genetics, Inc. 3 9 3 0 0 0 15
Genome-Nilou Lab 3 0 2 3 3 0 11
GeneReviews 0 0 0 0 0 9 9
Revvity Omics, Revvity Omics 5 0 0 0 0 0 5
HFI Laboratory at Boston University, Boston University 4 0 0 0 0 0 4
Mendelics 2 1 0 0 0 0 3
DLE - Diagnosticos Laboratoriais Especializados 3 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 1 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
3billion 2 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 1
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 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
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 1 0 0 0 1

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