ClinVar Miner

Variants in gene FXN

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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 total
10 10 24 15 21 72

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 5 5 16 5 19 46
Inborn genetic diseases 0 0 6 7 2 15
Friedreich ataxia 1 3 4 1 1 0 9
Friedreich ataxia 4 1 0 0 0 5
not specified 0 0 1 1 2 4
FXN-related disorder 0 1 0 1 0 2
Cardiovascular phenotype 0 0 0 1 0 1
Charcot-Marie-Tooth-like disease 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Athena Diagnostics 5 3 11 1 4 24
GeneDx 1 0 2 0 18 21
Ambry Genetics 0 0 6 8 2 16
Breakthrough Genomics, Breakthrough Genomics 0 0 0 1 12 13
OMIM 5 1 0 0 0 6
CeGaT Center for Human Genetics Tuebingen 0 0 2 2 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 1 1 0 0 2
PreventionGenetics, part of Exact Sciences 0 1 0 1 0 2
Eurofins Ntd Llc (ga) 1 0 0 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 1 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 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
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 1
CMT Laboratory, Bogazici University 0 0 1 0 0 1

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