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
42 11 79 37 8 156

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 20 7 47 5 0 77
Emery-Dreifuss muscular dystrophy 1, X-linked 18 1 33 8 6 66
not specified 0 0 11 30 6 44
Emery-Dreifuss muscular dystrophy, X-linked 10 0 0 0 0 10
Cardiomyopathy 0 1 5 2 1 9
Cardiovascular phenotype 1 0 2 3 1 7
Neuromuscular Diseases 2 1 0 0 0 3
Familial dilated cardiomyopathy 0 1 0 0 0 1
Muscular Diseases; 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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 14 0 33 7 6 60
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
Athena Diagnostics Inc 2 0 0 1 1 4
Integrated Genetics/Laboratory Corporation of America 0 1 1 1 1 4
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 0 2 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 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
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 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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