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
89 20 1144 533 164 2 1875

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 12 5 486 241 61 0 767
SYNE2 1 1 414 205 70 0 653
MYH7 8 5 39 39 7 0 98
SUN1 0 0 56 7 6 0 69
LMNA 22 5 23 12 4 2 67
FHL1 14 3 41 5 2 0 65
EMD 28 1 31 2 0 0 62
SUN2 0 0 25 9 4 0 38
ESR1, SYNE1 0 0 16 5 8 0 29
MHRT, MYH7 0 0 5 6 1 0 12
GTPBP1, SUN2 0 0 3 0 0 0 3
TMEM43 2 0 1 0 0 0 3
EMD, FLNA 0 0 2 0 0 0 2
ABCD1, ARHGAP4, AVPR2, DNASE1L1, EMD, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, RPL10, SRPK3, SSR4, TAZ, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 1
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
MYH6, MYH7 0 0 0 0 1 0 1
TTN 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 29 6 842 66 59 0 1002
Illumina Clinical Services Laboratory,Illumina 0 0 284 468 119 0 871
OMIM 39 0 1 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 1 3 11 0 0 0 15
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 4 8 0 13
Athena Diagnostics Inc 2 2 0 0 3 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 3 0 0 0 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
Mendelics 2 0 1 0 0 0 3
GeneReviews 3 0 0 0 0 0 3
Baylor Genetics 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 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
Mayo Clinic Genetic Testing 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
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 Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 1

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