ClinVar Miner

Variants studied for hereditary motor and sensory neuropathy type 6

Included ClinVar conditions (10):
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
35 17 212 125 63 4 452

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC25A46 19 10 156 111 15 0 309
MFN2 12 5 48 13 43 4 123
PDXK 2 1 1 1 3 0 8
LOC129929423, MFN2 0 0 5 0 0 0 5
LOC129929426, MFN2 0 0 2 0 0 0 2
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

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 16 5 151 111 15 0 298
Illumina Laboratory Services, Illumina 1 0 42 11 45 0 99
OMIM 14 0 0 0 0 0 14
Fulgent Genetics, Fulgent Genetics 3 0 1 5 1 0 10
Baylor Genetics 4 0 5 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 3 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 3 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 2 0 0 0 2
Mendelics 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 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 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
CMT Laboratory, Bogazici University 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 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
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 1

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