ClinVar Miner

Variants studied for neuronopathy, distal hereditary motor, autosomal dominant

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 not provided total
62 26 1500 926 273 14 2743

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DCTN1 8 2 606 478 67 3 1132
FBXO38 2 1 342 230 27 3 600
SLC5A7 1 2 242 161 9 0 415
TRPV4 5 2 47 13 58 2 122
GARS1 9 3 36 6 40 1 93
BSCL2, HNRNPUL2-BSCL2 6 1 57 16 10 4 89
MYH14 1 0 34 2 16 1 54
HSPB3 1 0 33 14 6 0 51
HSPB1 9 8 13 2 16 0 45
HSPB8 2 2 19 3 16 0 40
IGHMBP2 1 0 35 0 0 0 36
REEP1 2 2 6 0 4 0 14
DYNC1H1 0 0 12 0 0 0 12
WARS1 3 1 2 0 3 0 8
BICD2 3 0 2 0 1 0 6
SPTAN1 4 2 0 0 0 0 6
MIR4497, TRPV4 0 0 3 1 0 0 4
CCDC138, EDAR, GCC2, LIMS1, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 2 0 0 0 2
EMILIN1 2 0 0 0 0 0 2
IGHMBP2, LOC126861245 0 0 2 0 0 0 2
BSCL2, GNG3, HNRNPUL2-BSCL2 0 0 1 0 0 0 1
CCDC138, EDAR, GCC2, LIMS1, LINC01593, LINC01594, LOC107305685, LOC112695112, LOC122817721, LOC122817722, LOC126806301, LOC126806302, LOC126806303, LOC129388897, LOC129388898, LOC129934519, LOC129934520, LOC129934521, LOC129934522, LOC129934523, LOC129934524, LOC129934525, LOC129934526, LOC129934527, LOC129934528, LOC129934529, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 1 0 0 0 1
FIG4 0 0 1 0 0 0 1
LMNA 0 0 1 0 0 0 1
MORC2 0 0 1 0 0 0 1
MPZ 1 0 0 0 0 0 1
NEFL 0 0 1 0 0 0 1
PNPO 1 0 0 0 0 0 1
SETX 0 0 1 0 0 0 1
SON 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 8 2 1181 871 88 0 2150
Illumina Laboratory Services, Illumina 0 0 146 47 177 0 370
Fulgent Genetics, Fulgent Genetics 3 0 68 22 3 0 96
Inherited Neuropathy Consortium 3 0 55 0 1 0 59
OMIM 38 0 0 0 0 0 38
Genome-Nilou Lab 0 0 0 0 37 0 37
Baylor Genetics 0 1 21 0 0 0 22
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 10 0 0 0 11
Inherited Neuropathy Consortium Ii, University Of Miami 1 0 8 0 0 0 9
MGZ Medical Genetics Center 2 0 6 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 7 0 0 0 7
Biochimie - Maladies Neurologiques Hereditaires, Hospices Civils de Lyon 1 5 1 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 2 4 0 0 0 7
Revvity Omics, Revvity 0 0 6 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 5 0 0 0 6
Genesis Genome Database 0 0 5 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 3 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 4 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
3billion 1 1 2 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 1 2 0 0 0 3
Institute of Human Genetics, Cologne University 2 1 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Mendelics 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 2
DASA 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 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
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Laboratory of Applied Genomics, Kongju National University 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Department of Neurology, Hospital Garcia de Orta 0 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Paris Brain Institute, Inserm - ICM 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Chongqing Key Laboratory of Neurology, First Affiliated Hospital of Chongqing Medical University 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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