ClinVar Miner

Variants studied for Emery-Dreifuss muscular dystrophy

Included ClinVar conditions (35):
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
346 135 5875 3981 1002 17 10803

Gene and significance breakdown #

Total genes and gene combinations: 45
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SYNE1 115 41 2248 1721 393 2 4276
SYNE2 2 5 2113 1278 412 4 3574
SUN1 0 0 275 216 51 0 542
EMD 82 15 200 237 25 0 525
FHL1 71 14 185 156 16 1 439
MYH7 26 24 183 45 17 2 292
LMNA 29 21 160 28 12 7 248
GTPBP1, SUN2 0 0 136 93 17 0 246
SUN2 0 0 90 79 13 0 182
LOC126859837, SYNE1 3 1 41 38 6 0 85
TMEM43 2 1 47 7 8 0 65
ESR1, SYNE1 0 0 37 14 12 0 62
LOC126861897, MHRT, MYH7 1 4 35 2 3 0 45
LOC129997480, SYNE1 1 0 21 22 3 0 44
LOC126859838, SYNE1 1 0 14 19 1 0 33
MHRT, MYH7 0 1 19 3 2 0 24
LOC126859921, SUN1 0 0 13 8 1 0 22
LOC126861898, MYH7 2 5 10 2 0 0 18
LOC126859836, SYNE1 0 0 7 6 4 0 16
LMNA, LOC126805877 2 2 10 3 1 0 15
LMNA, LOC129931597 1 1 7 1 1 1 11
LOC130055816, SYNE2 0 0 6 0 3 0 9
LOC126861897, MYH7 0 0 5 1 0 0 6
ABCD1, ARHGAP4, AVPR2, DNASE1L1, EMD, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, RPL10, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187 1 0 1 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 2
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 1
ADGRG4, BRS3, CD40LG, FHL1, HTATSF1, MAP7D3, VGLL1 1 0 0 0 0 0 1
ANKRD54, BAIAP2L2, C1QTNF6, C22orf23, CARD10, CBY1, CDC42EP1, CIMIP4, CSF2RB, CSNK1E, CYTH4, DDX17, DMC1, EIF3L, ELFN2, FAM227A, GALR3, GCAT, GGA1, GTPBP1, H1-0, IFT27, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, LGALS1, LGALS2, MAFF, MFNG, MICALL1, MIR659, MPST, NCF4, NOL12, PDXP, PICK1, PLA2G6, POLR2F, PVALB, RAC2, SH3BP1, SLC16A8, SOX10, SSTR3, SUN2, TMEM184B, TMPRSS6, TOMM22, TRIOBP, TST 0 0 1 0 0 0 1
ARHGAP4, AVPR2, EMD, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FLNA, MECP2, OPN1LW, OPN1MW, OPN1MW2, RPL10, TAFAZZIN, TEX28, TKTL1 0 0 1 0 0 0 1
DNAAF5, FAM20C, PDGFA, PRKAR1B, SUN1 0 0 1 0 0 0 1
DNAAF5, SUN1 0 0 1 0 0 0 1
DNASE1L1, EMD, FLNA, RPL10, TAFAZZIN 0 0 1 0 0 0 1
EMD, LOC107988033, LOC130068862, LOC130068863, LOC130068864 1 0 0 0 0 0 1
EMD, LOC130068864 0 0 1 0 0 0 1
ESR1, FBXO5, LINC02840, LOC105378066, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC129389688, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 0 1
ESR1, LOC129389688, LOC129997477, LOC129997478, SYNE1 0 0 1 0 0 0 1
FBXO5, MTRF1L, MYCT1, OPRM1, RGS17, SYNE1, VIP 1 0 0 0 0 0 1
LOC114827851, MYH6, MYH7 0 0 0 1 0 0 1
LOC114827851, MYH7 0 0 0 1 0 0 1
LZTR1 1 0 0 0 0 0 1
MIR208B, MYH7 0 0 1 0 0 0 1
MYH6, MYH7 0 0 0 0 1 0 1
TTN 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 93
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 245 42 4884 3753 594 0 9518
Illumina Laboratory Services, Illumina 0 2 445 170 660 0 1273
Fulgent Genetics, Fulgent Genetics 30 31 395 98 17 0 571
Revvity Omics, Revvity 2 3 338 17 0 0 360
Genome-Nilou Lab 0 0 5 0 61 0 66
Baylor Genetics 8 7 49 0 0 0 64
Natera, Inc. 0 0 35 13 6 0 54
OMIM 42 0 1 0 0 0 43
Neuberg Centre For Genomic Medicine, NCGM 1 2 20 0 0 0 23
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 17 0 21
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 12 0 0 0 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 10 0 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 4 8 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 4 0 0 0 0 12
Juno Genomics, Hangzhou Juno Genomics, Inc 5 7 0 0 0 0 12
MGZ Medical Genetics Center 0 5 6 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 5 1 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 1 1 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 2 3 1 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 3 3 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 3 0 0 0 5
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 3 1 1 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 3 0 4
MVZ Medizinische Genetik Mainz 0 0 4 0 0 0 4
Athena Diagnostics 1 2 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 2 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 3 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 2 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Phosphorus, Inc. 0 0 3 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 1 1 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 3 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 1 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 0 2 1 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 1 1 0 0 2
Mendelics 1 0 0 0 1 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 0 2
Department of Medical Genetics, National Institute of Health 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Breda Genetics srl 0 1 0 1 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 0 0 0 0 2
3billion, Medical Genetics 0 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 2
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 0 2 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
ClinGen Cardiomyopathy Variant Curation Expert Panel 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Solve-RD Consortium 0 1 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 0 1 0 0 0 1
Unidad de Genética, Hospital Universitario de Canarias 0 1 0 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.