ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
7 6 315 186 39 3 541

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
YARS1 7 6 247 158 23 2 429
LOC126805688, YARS1 0 0 47 22 1 0 69
S100PBP, YARS1 0 0 19 6 11 0 36
LOC132088696, S100PBP, YARS1 0 0 1 0 4 0 5
A3GALT2, ADPRS, AGO1, AGO3, AGO4, AIRIM, AK2, AKIRIN1, AKR1A1, ARMH1, ARTN, ATP6V0B, AZIN2, B4GALT2, BEST4, BMP8A, BMP8B, BTBD19, C1orf122, C1orf210, C1orf216, C1orf50, C1orf94, CAP1, CCDC17, CCDC24, CCDC30, CDC20, CDCA8, CFAP144, CFAP57, CITED4, CLDN19, CLSPN, COL8A2, COL9A2, CSF3R, CSMD2, CTPS1, DLGAP3, DMAP1, DNALI1, DPH2, DYNLT4, EBNA1BP2, EDN2, EIF2B3, ELOVL1, EPHA10, ERI3, ERMAP, EVA1B, EXO5, FHL3, FNDC5, FOXJ3, FOXO6, GJA4, GJA9, GJB3, GJB4, GJB5, GNL2, GPBP1L1, GRIK3, GUCA2A, GUCA2B, HECTD3, HEYL, HIVEP3, HMGB4, HPCA, HPCAL4, HPDL, HYI, INPP5B, IPO13, IPP, KCNQ4, KDM4A, KIAA0319L, KIAA0754, KIF2C, KLF17, LSM10, MACF1, MANEAL, MAP7D1, MAST2, MEAF6, MED8, MFSD2A, MIR30C1, MMACHC, MPL, MRPS15, MTF1, MUTYH, MYCBP, MYCL, NASP, NCDN, NDUFS5, NFYC, NT5C1A, OSCP1, OXCT2, P3H1, PABPC4, PHC2, PIK3R3, PLK3, POMGNT1, POU3F1, PPCS, PPIE, PPIH, PPT1, PRDX1, PSMB2, PTCH2, PTPRF, RHBDL2, RIMKLA, RIMS3, RLF, RNF19B, RNF220, RPS8, RRAGC, RSPO1, S100PBP, SCMH1, SF3A3, SFPQ, SH3D21, SLC2A1, SLC6A9, SLFNL1, SMAP2, SMIM12, SNIP1, ST3GAL3, STK40, SVBP, SZT2, TEKT2, TESK2, TFAP2E, THRAP3, TIE1, TMCO2, TMEM125, TMEM35B, TMEM53, TMEM54, TMEM69, TOE1, TRAPPC3, TRIM62, TRIT1, TSPAN1, UROD, UTP11, YARS1, YBX1, YRDC, ZC3H12A, ZFP69, ZFP69B, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF362, ZNF684, ZNF691, ZSCAN20, ZSWIM5 0 0 1 0 0 0 1
HSPB1 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 5 2 288 183 13 0 491
Illumina Laboratory Services, Illumina 0 0 23 2 34 0 59
OMIM 4 0 0 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 2
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1

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