ClinVar Miner

Variants studied for Hereditary fructosuria

Coded as:
Minimum submission review status: Collection method:
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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
80 117 88 250 26 9 482

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALDOB 75 117 88 250 26 9 477
ALDOB, LOC130002261 2 0 0 0 0 0 2
ALDOB, BAAT, GRIN3A, MRPL50, PGAP4, PPP3R2, RNF20, ZNF189 1 0 0 0 0 0 1
ALDOB, ZNF189 1 0 0 0 0 0 1
ANO5 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 55 18 25 239 10 0 347
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
Baylor Genetics 27 16 0 0 0 0 43
Natera, Inc. 9 3 10 10 7 0 39
Counsyl 2 26 8 2 0 0 38
Fulgent Genetics, Fulgent Genetics 9 17 10 0 0 0 36
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 14 7 0 0 0 0 21
Myriad Genetics, Inc. 3 9 3 0 0 0 15
OMIM 15 0 0 0 0 0 15
Genome-Nilou Lab 3 0 2 3 3 0 11
GeneReviews 0 0 0 0 0 9 9
Department of Pathology and Laboratory Medicine, Sinai Health System 3 0 4 0 0 0 7
Revvity Omics, Revvity 5 0 0 0 0 0 5
3billion 3 1 0 0 0 0 4
HFI Laboratory at Boston University, Boston University 4 0 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 0 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Mendelics 2 1 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 1 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 1 0 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 0 1 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1

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