ClinVar Miner

Variants studied for dyneinopathy

Included ClinVar conditions (8):
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
36 64 1419 2222 172 9 3763

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
DYNC1H1 35 61 1352 2137 166 9 3606
DYNC1H1, LOC126862060 1 2 50 82 4 0 134
DYNC1H1, LOC130056502 0 1 7 3 0 0 11
DYNC1H1, LOC125078040 0 0 4 0 2 0 6
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, PPP2R5C, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839 0 0 1 0 0 0 1
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839 0 0 1 0 0 0 1
AMN, ANKRD9, CINP, DYNC1H1, HSP90AA1, MOK, RCOR1, TECPR2, TRAF3, WDR20, ZNF839 0 0 1 0 0 0 1
DYNC1H1, LOC130056499, LOC130056500, PPP2R5C 0 0 1 0 0 0 1
DYNC1H1, PPP2R5C 0 0 1 0 0 0 1
HIVEP2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 74
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 27 12 1200 2179 161 0 3579
Illumina Laboratory Services, Illumina 0 0 92 44 43 0 179
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 31 0 0 0 31
Fulgent Genetics, Fulgent Genetics 1 1 11 14 0 0 27
Institute of Human Genetics, University of Leipzig Medical Center 3 3 17 2 0 0 25
New York Genome Center 0 1 16 0 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 14 1 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 0 2 11 0 0 0 13
Baylor Genetics 0 2 9 0 0 0 11
Genome-Nilou Lab 0 0 0 0 10 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 5 2 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 7 0 1 0 9
3billion 1 2 5 0 0 0 8
Mendelics 0 3 3 1 0 0 7
OMIM 6 0 0 0 0 0 6
MGZ Medical Genetics Center 0 0 4 1 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 5 0 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 4 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 4 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 1 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
GenomeConnect - Brain Gene Registry 0 0 0 0 0 4 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 3 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 3 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 1 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 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
Laboratory of Human Genetics, Universidade de São Paulo 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Tongji Hospital, Huazhong University of Science and Technology 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 0 0 1
Suma Genomics 0 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 1

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