ClinVar Miner

Variants studied for Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
2 4 1905 1144 410 4 3241

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SYNE2 2 4 1899 1144 407 4 3232
LOC130055816, SYNE2 0 0 6 0 3 0 9

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 1600 1082 244 0 2926
Illumina Laboratory Services, Illumina 0 0 147 62 293 0 502
Revvity Omics, Revvity 0 0 322 17 0 0 339
Genome-Nilou Lab 0 0 0 0 24 0 24
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 17 0 21
Fulgent Genetics, Fulgent Genetics 0 0 5 10 1 0 16
Baylor Genetics 0 0 11 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 8 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 7 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 1 1 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 3 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 1 1 0 0 0 2
OMIM 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Breda Genetics srl 0 0 0 1 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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