ClinVar Miner

Variants studied for axonal hereditary motor and sensory neuropathy

Included ClinVar conditions (35):
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 risk factor not provided total
176 66 953 345 157 3 5 1674

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
IGHMBP2 46 18 270 110 35 0 0 472
LRSAM1 21 14 224 93 26 0 2 360
SLC25A46 13 6 95 27 7 0 0 147
TRIM2 4 1 89 49 3 0 0 145
TFG 4 0 73 37 9 0 1 124
MFN2 7 4 46 11 43 0 0 111
GDAP1 15 1 65 8 15 0 0 104
HINT1 16 3 30 2 4 0 0 55
LMNA 4 0 29 8 11 0 2 54
MME 7 3 6 0 0 3 0 19
OPA1 10 2 6 0 0 0 0 18
ATP1A3 7 6 3 0 0 0 0 16
SPG11 9 1 6 0 0 0 0 16
SCYL1 7 2 3 0 0 0 0 12
MED25 1 2 3 0 1 0 0 6
PDXK 2 1 0 0 0 0 0 3
PNKP 2 1 0 0 0 0 0 3
MFN2, PLOD1 0 0 0 0 2 0 0 2
DNAJB2 1 0 0 0 0 0 0 1
DYNC1H1 0 0 1 0 0 0 0 1
ELOC, GDAP1, JPH1, LINC01617, LY96, TMEM70, UBE2W 0 0 1 0 0 0 0 1
GARS1 0 0 1 0 0 0 0 1
JPH1 0 0 0 0 1 0 0 1
MTRFR 0 1 0 0 0 0 0 1
PLD3, PRX 0 0 1 0 0 0 0 1
SLC12A6 0 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 risk factor not provided total
Invitae 73 26 739 303 75 0 0 1216
Illumina Clinical Services Laboratory,Illumina 0 0 170 52 85 0 0 307
OMIM 72 0 1 0 0 3 0 76
Fulgent Genetics,Fulgent Genetics 12 1 15 0 0 0 0 28
Baylor Genetics 9 4 13 0 0 0 0 26
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 5 6 0 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 2 4 0 0 0 0 9
Institute of Human Genetics,Cologne University 2 2 2 0 0 0 0 6
Mendelics 1 2 1 0 2 0 0 6
GeneReviews 6 0 0 0 0 0 0 6
Institute of Human Genetics, Klinikum rechts der Isar 1 4 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 1 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 2 0 0 0 0 4
Undiagnosed Diseases Network,NIH 2 1 1 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 0 4
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 3 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 2 1 0 0 0 0 4
CMT Laboratory,Bogazici University 3 1 0 0 0 0 0 4
Department of Medical Genetics, Oslo University Hospital 0 3 0 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 3 0 0 0 0 3
Genesis Genome Database 0 0 3 0 0 0 0 3
Athena Diagnostics Inc 1 0 0 0 1 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 0 0 0 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 0 2
Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de Lyon 2 0 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 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 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 0 2
Neuromuscular Group,Huashan Hospital, Fudan University 0 2 0 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 0 0 2
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 1 0 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
National Institute on Deafness and Communication Disorders,National Institutes of Health 0 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 0 1
Neurology Department,Peking University First Hospital 1 0 0 0 0 0 0 1
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 0 0 1 0 0 0 0 1
Inherited Neuropathy Consortium 0 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 1
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM 0 1 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 0 1
Human Genetics Research Center,Baqiyatallah University of Medical Sciences 1 0 0 0 0 0 0 1

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