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
49 12 96 56 10 198

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Emery-Dreifuss muscular dystrophy 1, X-linked 28 2 51 24 8 113
not provided 21 7 47 13 0 84
not specified 0 0 10 32 6 44
Cardiomyopathy 0 1 6 2 2 11
Emery-Dreifuss muscular dystrophy, X-linked 10 0 0 0 0 10
Cardiovascular phenotype 1 0 2 3 1 7
Neuromuscular disease 2 1 0 0 0 3
Dilated cardiomyopathy 1A 0 0 1 0 0 1
Familial dilated cardiomyopathy 0 1 0 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 hypertrophic cardiomyopathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 23 0 51 31 8 113
GeneDx 4 0 15 30 5 54
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 11 1 34 3 4 53
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 1 7 6 3 19
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 10 5 0 0 0 15
OMIM 10 0 0 0 0 10
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 5 2 1 8
Ambry Genetics 1 0 2 3 1 7
Integrated Genetics/Laboratory Corporation of America 0 1 0 3 3 7
Athena Diagnostics Inc 2 0 0 2 1 5
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 2 0 0 4
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 0 2 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 2 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 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
Genetic Services Laboratory,University of Chicago 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 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

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