ClinVar Miner

Variants studied for autosomal dominant Emery-Dreifuss muscular dystrophy

Included ClinVar conditions (9):
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
33 8 477 166 224 900

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SYNE1 7 3 262 88 108 467
SYNE2 1 1 204 77 115 391
LMNA 22 4 5 0 0 31
ESR1, SYNE1 0 0 5 1 1 7
TMEM43 2 0 1 0 0 3
ESR1, FBXO5, LINC02840, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 4 0 452 165 212 833
Fulgent Genetics 3 0 19 0 0 22
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 17 21
OMIM 17 0 1 0 0 18
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 8 0 0 10
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 8 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 2 0 0 0 6
Athena Diagnostics Inc 2 2 0 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 3 4
GeneReviews 3 0 0 0 0 3
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
UCLA Clinical Genomics Center, UCLA 1 0 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
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 0 1 0 0 1

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