ClinVar Miner

Variants studied for hereditary sensory and autonomic neuropathy type 2

Included ClinVar conditions (19):
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
250 96 3694 2984 299 21 7189

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KIF1A 65 36 864 1390 103 5 2435
SCN1A, SCN9A 93 32 1319 699 92 9 2181
WNK1 55 12 1139 687 69 5 1917
SCN9A 22 13 277 145 12 1 464
KIF1A, LOC126806583 1 1 29 58 6 1 96
RETREG1 5 2 43 5 16 0 65
LOC129993734, RETREG1 3 0 14 0 1 0 17
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC126806396, LOC129388938, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 3 0 0 0 0 0 3
CSRNP3, GALNT3, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 2 0 1 0 0 0 3
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COL6A3, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 1 0 0 0 2
AGXT, KIF1A 0 0 2 0 0 0 2
LOC130007151, WNK1 0 0 2 0 0 0 2
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC126806396, LOC129388938, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN2A, SCN9A, TTC21B 0 0 1 0 0 0 1
CSRNP3, GALNT3, SCN1A, SCN2A, SCN9A, TTC21B 0 0 1 0 0 0 1
LOC130007151, LOC130007152, WNK1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 207 78 3335 2933 248 0 6800
Fulgent Genetics, Fulgent Genetics 1 5 366 70 6 0 448
Illumina Laboratory Services, Illumina 0 0 177 38 61 0 276
Genome-Nilou Lab 0 0 0 0 33 0 33
OMIM 21 0 0 0 0 0 21
Baylor Genetics 4 1 12 0 0 0 17
Institute of Human Genetics, University Hospital Jena 16 0 0 0 0 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 14 0 1 0 16
Athena Diagnostics 0 0 0 0 12 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 2 2 7 0 12
Mendelics 3 2 0 2 2 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 2 4 0 0 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 9 9
GeneReviews 2 0 0 0 0 4 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 2 1 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 4 0 0 0 6
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 5 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 4 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
New York Genome Center 1 0 2 0 0 0 3
Neuroalgology unit, Genetics of Neuropathic Pain Laboratory, Fondazione IRCCS Istituto Neurologico Carlo Besta 3 0 0 0 0 0 3
MGZ Medical Genetics Center 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Molecular Neuropsychiatry & Development Lab, Centre for Addiction and Mental Health 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Department of Neurology, Hospital Garcia de Orta 1 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 1 0 0 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 1 0 0 0 0 1

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