ClinVar Miner

Variants studied for Friedreich ataxia 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
5 4 1 1 1 12

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 3 3 0 1 0 7
FXN, LOC130001862 1 1 1 0 1 4
FXN, LOC108510657 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 0 0 0 2
OMIM 1 0 0 0 0 1
Baylor Genetics 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Institute of Genomic Medicine, Catholic University 0 0 0 1 0 1
Genome-Nilou Lab 0 0 0 0 1 1

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