ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease dominant intermediate B

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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
15 8 537 542 70 1131

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DNM2 15 8 500 512 68 1062
DNM2, LOC130063529 0 0 30 22 0 52
DNM2, LOC130063529, MIR638 0 0 2 5 0 7
DNM2, MIR6793 0 0 0 3 2 5
DNM2, MIR199A1 0 0 2 0 0 2
ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, KLF1, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, RGL3, RNASEH2A, RTBDN, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878 0 0 1 0 0 1
DNM2, LOC130063529, LOC130063530, LOC130063531, LOC130063532, LOC130063533, LOC130063534, LOC130063535, LOC130063536, MIR4748, MIR638 0 0 1 0 0 1
SCN9A 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 14 5 468 542 40 1069
Illumina Laboratory Services, Illumina 0 0 40 3 49 92
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 32 0 0 32
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 2
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 1 1 0 0 2
OMIM 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Mendelics 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
DASA 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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