ClinVar Miner

Variants in gene EMD

Minimum submission review status: Collection method:
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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 total
93 28 252 278 34 594

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
X-linked Emery-Dreifuss muscular dystrophy 78 6 181 237 22 513
not provided 22 11 64 34 10 128
Cardiovascular phenotype 4 1 51 66 3 124
Emery-Dreifuss muscular dystrophy 2 1 35 13 6 57
not specified 0 0 17 32 14 56
Emery-Dreifuss muscular dystrophy 1, X-linked 7 10 18 0 3 37
Cardiomyopathy 0 0 9 4 2 15
EMD-related disorder 1 0 0 7 1 9
Neuromuscular disease 2 1 0 0 0 3
Charcot-Marie-Tooth disease type 2 0 1 0 0 0 1
Hypertrophic cardiomyopathy 0 0 1 0 0 1
Myopathy; Failure to thrive; Flexion contracture 1 0 0 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 1
Primary familial dilated cardiomyopathy 0 1 0 0 0 1
Primary familial hypertrophic cardiomyopathy 0 0 1 0 0 1
See cases 0 0 0 1 0 1
X-linked myopathy with postural muscle atrophy 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 63 2 172 235 22 494
Ambry Genetics 4 1 49 66 3 123
GeneDx 6 2 30 34 13 85
Natera, Inc. 0 0 35 13 6 54
Eurofins Ntd Llc (ga) 11 1 34 3 4 53
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 7 9 6 25
Revvity Omics, Revvity 2 3 16 0 0 21
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 7 6 3 19
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 10 5 0 0 0 15
Clinical Genetics, Academic Medical Center 0 0 3 0 12 15
Fulgent Genetics, Fulgent Genetics 1 0 10 3 1 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 10 3 14
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 8 4 1 13
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 1 3 5 3 12
CeGaT Center for Human Genetics Tuebingen 1 2 5 3 0 11
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 3 7 1 11
OMIM 10 0 0 0 0 10
PreventionGenetics, part of Exact Sciences 1 0 0 7 1 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 7 0 8
Athena Diagnostics 2 1 0 2 2 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 1 4 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 3 1 7
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 4 7
Genome-Nilou Lab 0 0 5 0 0 5
Baylor Genetics 1 2 0 0 0 3
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 0 2 0 0 3
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 2 0 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Blueprint Genetics 0 0 2 0 0 2
Illumina Laboratory Services, Illumina 0 2 0 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 1 0 1 2
3billion 0 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 0 0 0 0 1
Unidad de Genética, Hospital Universitario de Canarias 0 1 0 0 0 1

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