ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease axonal type 2O

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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 total
35 30 1536 2500 175 4164

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DYNC1H1 33 30 1465 2401 168 3990
DYNC1H1, LOC126862060 2 0 53 95 4 149
DYNC1H1, LOC130056502 0 0 9 4 1 14
DYNC1H1, LOC125078040 0 0 4 0 2 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 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 1
AMN, ANKRD9, CINP, DYNC1H1, HSP90AA1, MOK, RCOR1, TECPR2, TRAF3, WDR20, ZNF839 0 0 1 0 0 1
DYNC1H1, LOC130056499, LOC130056500, PPP2R5C 0 0 1 0 0 1
DYNC1H1, PPP2R5C 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 35 15 1387 2474 164 4075
Illumina Laboratory Services, Illumina 0 0 92 44 43 179
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 31 0 0 31
Genome-Nilou Lab 0 0 0 0 10 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 7 0 1 9
Mendelics 0 3 3 1 0 7
Baylor Genetics 0 1 4 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 0 3 0 0 5
Institute of Human Genetics, University of Wuerzburg 0 0 3 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
MGZ Medical Genetics Center 0 0 1 1 0 2
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 0 2 0 0 2
3billion 0 0 2 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
Solve-RD Consortium 0 2 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 2
OMIM 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 1 0 0 0 1

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