ClinVar Miner

Variants in gene GARS1

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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 not provided total
29 26 504 318 91 15 847

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease type 2 13 8 329 255 25 0 630
not provided 5 8 128 63 60 0 245
not specified 2 3 95 70 26 0 181
Charcot-Marie-Tooth disease type 2D 7 2 51 16 25 10 100
Neuronopathy, distal hereditary motor, type 5A 9 2 26 6 40 0 82
Distal spinal muscular atrophy 0 0 31 8 39 0 78
Charcot-Marie-Tooth disease 2 1 26 29 13 0 70
GARS1-related disorder 0 0 5 10 1 0 16
Spinal muscular atrophy, infantile, James type 4 1 1 0 3 3 9
Neuronopathy, distal hereditary motor, type 5 0 0 6 0 0 0 6
Charcot-Marie-Tooth disease type 2D; Neuronopathy, distal hereditary motor, type 5A 0 1 3 0 0 1 5
Peripheral axonal neuropathy 0 0 2 2 0 0 4
See cases 0 0 3 0 0 0 3
GARS-Associated Axonal Neuropathy 0 0 1 0 0 1 2
GARS-associated growth retardation and developmental delay 2 0 0 0 0 0 2
Charcot-Marie-Tooth disease type 5 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type I 0 0 1 0 0 0 1
GARS1-related neuropathies 0 0 1 0 0 0 1
Hereditary motor neuron disease 0 0 1 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Motor neuron disease 0 0 1 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal dominant 0 0 1 0 0 0 1
Pes cavus 0 0 1 0 0 0 1
Tip-toe gait 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 13 8 327 254 25 0 627
GeneDx 3 4 72 63 54 0 195
Ambry Genetics 3 3 81 47 0 0 134
Illumina Laboratory Services, Illumina 0 0 31 22 39 0 73
Molecular Genetics Laboratory, London Health Sciences Centre 0 0 6 28 12 0 46
CeGaT Center for Human Genetics Tuebingen 1 0 24 18 3 0 46
Athena Diagnostics 2 0 15 6 22 0 45
PreventionGenetics, part of Exact Sciences 0 0 5 16 12 0 33
Mayo Clinic Laboratories, Mayo Clinic 0 1 14 2 9 0 26
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 24 0 0 0 24
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 8 7 6 0 22
Inherited Neuropathy Consortium 2 1 16 1 0 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 11 3 1 0 16
Clinical Genetics, Academic Medical Center 0 0 2 0 12 0 14
OMIM 13 0 0 0 0 0 13
GeneReviews 0 0 0 0 0 13 13
Breakthrough Genomics, Breakthrough Genomics 0 0 0 13 0 0 13
Genesis Genome Database 0 0 12 0 0 0 12
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 9 0 10
Revvity Omics, Revvity 0 0 9 0 0 0 9
Eurofins Ntd Llc (ga) 0 1 5 1 2 0 9
Baylor Genetics 0 1 3 0 0 0 4
Mendelics 2 0 1 0 1 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 2 0 4
3billion 1 1 2 0 0 0 4
Institute of Human Genetics, Cologne University 1 0 2 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 1 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Antonellis Laboratory at Michigan, University of Michigan 2 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 0 0 0 0 1 0 1
Department of Neurology, Hospital Garcia de Orta 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Department of Clinical Genetics, Nationwide Children's Hospital 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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