ClinVar Miner

Variants studied for Emery-Dreifuss muscular dystrophy

Included ClinVar conditions (27):
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
147 32 2305 882 760 4 3826

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SYNE1 35 11 1013 365 344 0 1608
SYNE2 1 0 845 325 327 0 1365
SUN1 0 0 124 43 24 0 191
EMD 48 3 75 52 8 0 186
FHL1 29 7 78 30 10 1 153
SUN2 0 0 68 45 17 0 130
LMNA 22 6 41 10 16 2 89
ESR1, SYNE1 0 0 32 3 12 0 46
MYH7 8 5 16 5 0 1 35
GTPBP1, SUN2 0 0 6 2 1 0 9
TMEM43 2 0 1 0 0 0 3
ABCD1, ARHGAP4, AVPR2, DNASE1L1, EMD, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, RPL10, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187 1 0 1 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 2
ARHGAP4, AVPR2, EMD, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 1
ESR1, FBXO5, LINC02840, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 0 1
LOC114827851, MYH6, MYH7 0 0 0 1 0 0 1
LOC114827851, MYH7 0 0 0 1 0 0 1
MHRT, MYH7 0 0 1 0 0 0 1
MYH6, MYH7 0 0 0 0 1 0 1
TTN 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 84 14 1910 749 315 0 3072
Illumina Clinical Services Laboratory,Illumina 0 0 357 151 646 0 1148
OMIM 39 0 1 0 0 0 40
Baylor Genetics 0 3 37 0 0 0 40
Fulgent Genetics,Fulgent Genetics 10 2 27 0 0 0 39
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 17 0 21
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 12 0 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 4 8 0 13
Natera, Inc. 0 0 7 3 1 0 11
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 1 1 0 7
Athena Diagnostics Inc 2 2 0 0 1 0 5
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 3 1 1 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 2 2 1 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 3 0 4
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 3 0 0 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 2 1 0 0 0 0 3
Mendelics 2 0 1 0 0 0 3
GeneReviews 3 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 0 1 0 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 1 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 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 Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1

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