ClinVar Miner

Variants studied for motor peripheral neuropathy

Included ClinVar conditions (26):
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 not provided total
66 42 876 605 141 11 1696

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TRPV4 23 17 489 345 59 5 900
TFG 5 0 164 135 15 1 319
SLC25A46 19 10 156 111 15 0 309
MFN2 12 5 48 13 43 4 123
HK1 2 5 4 1 7 1 19
LOC129929423, MFN2 0 0 5 0 0 0 5
SLC5A6 3 2 0 0 0 0 4
MIR4497, TRPV4 0 0 3 0 0 0 3
LOC129929426, MFN2 0 0 2 0 0 0 2
AGTPBP1 0 1 0 0 0 0 1
DYNC1H1 0 0 1 0 0 0 1
GARS1 0 0 1 0 0 0 1
INF2 0 0 1 0 0 0 1
LOC129929423, MFN2, PLOD1 0 0 0 0 1 0 1
LOC129994343, LOC129994344, SLC25A46, TMEM232 1 0 0 0 0 0 1
LOC129994345, SLC25A46 1 0 0 0 0 0 1
MFN2, PLOD1 0 0 0 0 1 0 1
MTRFR 0 1 0 0 0 0 1
MYH14 0 0 1 0 0 0 1
NEFH 0 1 0 0 0 0 1
PLD3, PRX 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 43 16 766 572 80 0 1477
Illumina Laboratory Services, Illumina 1 0 89 38 75 0 203
OMIM 26 0 0 0 0 0 26
Fulgent Genetics, Fulgent Genetics 4 1 11 8 2 0 26
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 2 10 0 0 0 16
Baylor Genetics 5 1 6 0 0 0 12
Mendelics 2 2 0 2 2 0 8
Genome-Nilou Lab 0 0 0 0 7 0 7
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 4 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 4 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 2 0 0 0 3
Genesis Genome Database 0 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 0 3
Athena Diagnostics 2 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Laboratory of Applied Genomics, Kongju National University 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Inherited Neuropathy Consortium 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
New York Genome Center 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
CMT Laboratory, Bogazici University 0 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1

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