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:
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 not provided total
2 5 2120 1278 415 4 3586

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 5 2114 1278 412 4 3577
LOC130055816, SYNE2 0 0 6 0 3 0 9

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 1807 1215 249 0 3271
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
Fulgent Genetics, Fulgent Genetics 0 0 12 10 1 0 23
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 17 0 21
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 4 1 0 13
Baylor Genetics 0 0 12 0 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 8 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 0 8 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 1 1 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 7 0 0 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 0 3
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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Breda Genetics srl 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 1
OMIM 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1

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