ClinVar Miner

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

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
40 33 1663 2684 176 4481

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 37 33 1585 2573 169 4287
DYNC1H1, LOC126862060 3 0 59 107 4 168
DYNC1H1, LOC130056502 0 0 10 4 1 15
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: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 40 17 1512 2657 165 4391
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 0 3 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
3billion 0 0 2 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
MGZ Medical Genetics Center 0 0 1 1 0 2
Solve-RD Consortium 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 1 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 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
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1
OMIM 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1

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