ClinVar Miner

Variants studied for Friedreich ataxia

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 total
12 6 4 1 1 24

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FXN 7 5 2 1 0 15
FXN, LOC130001862 2 1 2 0 1 6
FXN, LOC108510657 3 0 0 0 0 3

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 8 1 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Department of Diabetology, Dr. Suresh's Diabcare India Diabetes Center 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 1
Institute of Genomic Medicine, Catholic University 0 0 0 1 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1

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