ClinVar Miner

Variants studied for Emery-Dreifuss muscular dystrophy

Included ClinVar conditions (23):
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 total
83 16 861 619 353 1738

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SYNE1 8 3 364 271 142 685
SYNE2 1 1 309 235 140 595
MYH7 8 3 39 39 7 96
EMD 28 3 24 8 6 69
FHL1 13 1 32 11 10 67
SUN1 0 0 37 10 20 67
LMNA 22 5 21 12 4 64
SUN2 0 0 14 19 14 47
ESR1, SYNE1 0 0 11 6 8 25
MHRT, MYH7 0 0 5 6 1 12
TMEM43 2 0 1 0 0 3
GTPBP1, SUN2 0 0 2 0 0 2
EMD, FLNA 0 0 1 0 0 1
ESR1, FBXO5, LINC02840, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 1
LOC114827851, MYH6, MYH7 0 0 0 1 0 1
LOC114827851, MYH7 0 0 0 1 0 1
MYH6, MYH7 0 0 0 0 1 1
TTN 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 21 2 561 212 261 1057
Illumina Clinical Services Laboratory,Illumina 0 0 284 468 119 871
OMIM 40 0 1 0 0 41
Fulgent Genetics 10 2 27 0 0 39
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 17 21
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 4 8 13
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 10 0 0 12
Athena Diagnostics Inc 2 2 0 0 3 7
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 3 0 0 0 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 3 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 0 0 3
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 3 0 0 0 0 3
GeneReviews 3 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 1 1 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 2
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 1 0 0 1
Mendelics 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 1 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 1

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