ClinVar Miner

Variants studied for hereditary sensory and autonomic neuropathy

Included ClinVar conditions (44):
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
545 224 7858 5935 851 61 15014

Gene and significance breakdown #

Total genes and gene combinations: 57
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DST 102 30 1976 956 145 6 3148
KIF1A 62 30 786 1266 101 5 2224
SCN1A, SCN9A 85 30 1203 639 92 9 1995
WNK1 50 8 903 587 69 5 1586
NTRK1 117 56 396 707 44 10 1208
SCN11A 4 3 707 361 50 7 1121
DNMT1 5 3 489 566 86 1 1099
SPTLC2 6 4 290 137 100 2 521
SCN9A 19 9 245 131 11 1 410
SPTLC1 9 9 213 135 29 4 378
ATL3 3 0 202 127 27 0 357
PRDM12 8 3 89 67 16 0 183
NGF 3 0 93 50 8 0 145
KIF1A, LOC126806583 1 0 28 50 6 1 86
RETREG1 5 2 43 5 16 0 65
DNMT1, LOC126862853 1 0 13 42 8 0 61
LOC126806652, SCN11A 0 0 30 11 1 1 42
ATL1 4 2 7 3 23 3 38
ATL3, LOC126861231 0 0 25 13 0 0 38
DST, LOC129996656 0 0 24 6 1 0 31
AIFM1, RAB33A 5 16 4 4 2 0 28
LOC126860775, PRDM12 3 0 10 15 0 0 28
DNMT1, LOC130063472 0 0 13 13 1 0 27
DST, LOC129389544 2 0 18 3 3 0 26
KLHL7 12 6 5 0 3 0 23
LOC130002813, PRDM12 0 1 3 17 0 0 21
CRLF1 11 6 1 0 0 4 18
LOC129931648, NTRK1 3 2 5 8 0 1 17
LOC129993734, RETREG1 3 0 14 0 1 0 17
DNMT1, LOC107080555 0 0 3 9 2 0 14
INSRR, NTRK1 0 0 4 3 1 0 8
CRLF1, LOC112543470 6 1 0 0 0 0 7
CLCF1, LOC100130987 4 0 1 0 0 0 5
CRLF1, LOC130064021 2 0 0 0 0 1 3
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
ELP1 0 0 0 3 0 0 3
NTRK1, SH2D2A 0 0 0 0 3 0 3
​intergenic 2 0 0 0 0 0 2
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
AIFM1, LOC130068679, RAB33A 0 1 0 1 0 0 2
DNMT1, SHFL 1 0 1 0 0 0 2
LOC130007151, WNK1 0 0 2 0 0 0 2
AHSA1, GSTZ1, ISM2, LOC111591503, LOC125048452, LOC126862005, LOC129390650, LOC130056175, LOC130056176, LOC130056177, LOC130056178, LOC130056179, LOC130056180, LOC130056181, LOC130056182, LOC130056183, LOC130056184, LOC130056185, LOC130056186, LOC130056187, LOC132090269, NOXRED1, POMT2, SAMD15, SPTLC2, TMED8, VIPAS39 0 0 1 0 0 0 1
AHSA1, GSTZ1, ISM2, NOXRED1, POMT2, SAMD15, SPTLC2, TMED8, VIPAS39 0 0 1 0 0 0 1
ASPN, BICD2, CENPP, ECM2, IARS1, IPPK, NOL8, OGN, OMD, PRSS47, SPTLC1 0 0 1 0 0 0 1
ATL1, MAP4K5 0 0 0 0 1 0 1
ATL1, MAP4K5, SAV1 0 1 0 0 0 0 1
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
DST, LOC129389544, LOC129996656 0 0 1 0 0 0 1
FLVCR1 0 1 0 0 0 0 1
HAX1 0 0 0 0 1 0 1
LOC130002813, LOC130002814, PRDM12 1 0 0 0 0 0 1
LOC130007151, LOC130007152, WNK1 0 0 1 0 0 0 1
SCN10A, SCN11A, SCN5A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 101
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 411 124 7264 5792 632 0 14222
Illumina Laboratory Services, Illumina 0 3 451 97 238 0 789
Fulgent Genetics, Fulgent Genetics 2 2 190 95 11 0 300
Genome-Nilou Lab 11 10 96 53 117 0 287
Natera, Inc. 8 2 159 22 13 0 204
OMIM 91 0 1 0 0 0 92
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 13 15 28 0 58
Baylor Genetics 9 3 28 0 0 0 40
Mendelics 3 6 7 9 7 0 32
GeneReviews 4 0 0 0 0 24 28
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 8 7 9 0 1 0 25
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 24 0 0 0 24
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 23 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 8 0 0 0 0 20
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 17 0 1 0 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 9 3 0 0 19
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 5 12 0 17
Institute of Human Genetics, University Hospital Jena 16 0 0 0 0 0 16
3billion 8 5 1 2 0 0 16
Deafness Gene Diagnosis, Xijing Hospital 0 14 0 1 0 0 15
Athena Diagnostics 0 0 0 0 14 0 14
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 9 0 0 0 13
Revvity Omics, Revvity 5 1 6 0 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 10 0 11
Neuberg Centre For Genomic Medicine, NCGM 3 3 5 0 0 0 11
MGZ Medical Genetics Center 1 2 6 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 9 9
Institute of Human Genetics, University of Leipzig Medical Center 2 2 3 0 1 0 8
Counsyl 0 2 3 1 1 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 3 2 2 0 7
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 5 2 0 0 0 0 7
Centogene AG - the Rare Disease Company 0 0 5 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 1 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 4 0 0 0 5
Istanbul Faculty of Medicine, Istanbul University 4 1 0 0 0 0 5
GenomeConnect - Brain Gene Registry 0 0 0 0 0 5 5
National Research Council, Institute of Genetics and Biomedical Research 4 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
New York Genome Center 1 0 3 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 2 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 1 0 0 3
Pars Genome Lab 1 0 1 1 0 0 3
Neuroalgology unit, Genetics of Neuropathic Pain Laboratory, Fondazione IRCCS Istituto Neurologico Carlo Besta 3 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Inherited Neuropathy Consortium 0 0 2 0 0 0 2
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 2 0 0 0 2
Medical Genetics Unit, University of L'Aquila 0 2 0 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 2
Centre for Human Genetics, University of Kinshasa 0 1 1 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 0 2 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 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
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Neuromuscular disorders lab, University of Helsinki 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
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Molecular Neuropsychiatry & Development Lab, Centre for Addiction and Mental Health 1 0 0 0 0 0 1
Pediatric Genomics Discovery Program, Yale University 0 1 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Department of Neurology, Hospital Garcia de Orta 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Heon Lab, The Hospital for Sick Children 0 1 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
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1
Department of Molecular Genetics, Genome Genetics Laboratory 0 0 1 0 0 0 1
Laboratory of Pediatric Research, Suzhou Wujiang District Children's Hospital 0 1 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1

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