ClinVar Miner

Variants studied for Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
136 51 2437 1974 420 3 4766

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SYNE1 128 48 2317 1865 395 3 4511
LOC126859837, SYNE1 3 2 41 42 6 0 90
ESR1, SYNE1 0 0 35 17 11 0 62
LOC129997480, SYNE1 1 0 22 24 3 0 47
LOC126859838, SYNE1 1 0 15 19 1 0 34
LOC126859836, SYNE1 1 0 6 7 4 0 18
ESR1, FBXO5, LINC02840, LOC105378066, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC129389688, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 0 1
ESR1, LOC129389688, LOC129997477, LOC129997478, SYNE1 0 0 1 0 0 0 1
FBXO5, MTRF1L, MYCT1, OPRM1, RGS17, SYNE1, VIP 1 0 0 0 0 0 1
TCOF1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 129 35 2273 1907 227 0 4571
Illumina Laboratory Services, Illumina 0 0 151 65 334 0 550
Fulgent Genetics, Fulgent Genetics 3 0 34 22 0 0 59
Genome-Nilou Lab 0 0 0 0 31 0 31
Baylor Genetics 0 1 28 0 0 0 29
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 16 1 0 0 19
Neuberg Centre For Genomic Medicine, NCGM 0 1 8 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 3 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 2 0 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 2 3 0 0 0 0 5
MVZ Medizinische Genetik Mainz 0 1 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 1 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
OMIM 2 0 1 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Breda Genetics srl, Breda Genetics srl 0 1 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Neurology Laboratory, National Cheng Kung University Hospital 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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