ClinVar Miner

Variants in gene EMD

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 total
85 24 217 251 34 530

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
X-linked Emery-Dreifuss muscular dystrophy 73 6 154 219 22 462
not provided 22 9 61 32 8 121
Cardiovascular phenotype 3 1 40 42 3 89
Emery-Dreifuss muscular dystrophy 1 1 35 13 6 56
not specified 0 0 15 26 14 48
Emery-Dreifuss muscular dystrophy 1, X-linked 4 6 16 0 1 26
Cardiomyopathy 0 0 9 4 2 15
EMD-related condition 1 0 0 5 1 7
Neuromuscular disease 2 1 0 0 0 3
Charcot-Marie-Tooth disease type 2 0 1 0 0 0 1
Dilated cardiomyopathy 1A 0 0 1 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 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 57 2 145 217 22 443
Ambry Genetics 3 1 40 42 3 89
GeneDx 6 0 27 34 13 80
Natera, Inc. 0 0 35 13 6 54
Eurofins Ntd Llc (ga) 11 1 34 3 4 53
Revvity Omics, Revvity 2 3 16 0 0 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 5 6 6 20
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 3 7 1 11
OMIM 10 0 0 0 0 10
CeGaT Center for Human Genetics Tuebingen 1 2 4 2 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 7 0 8
PreventionGenetics, part of Exact Sciences 1 0 0 5 1 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 3 1 7
Athena Diagnostics Inc 2 1 0 2 1 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 1 2 5
Genome-Nilou Lab 0 0 5 0 0 5
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
Baylor Genetics 1 1 0 0 0 2
Blueprint Genetics 0 0 2 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 1 1 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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 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
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 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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 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

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