ClinVar Miner

Variants studied for Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Coded as:
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 not provided total
19 11 30 8 11 3 79

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LMNA 16 9 27 8 9 2 69
LMNA, LOC126805877 2 1 2 0 1 0 6
LMNA, LOC129931597 1 1 0 0 1 1 3
TMEM43 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 25 8 11 0 44
OMIM 12 0 0 0 0 0 12
Athena Diagnostics Inc 2 2 0 0 0 0 4
MGZ Medical Genetics Center 0 2 1 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 2 0 0 0 0 2
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 1 1 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1

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