ClinVar Miner

Variants studied for Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Included ClinVar conditions (4):
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
22 4 5 0 0 31

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
LMNA 22 4 5 31

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 12 0 0 12
Fulgent Genetics 2 0 3 5
Athena Diagnostics Inc 2 2 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 1 0 4
GeneReviews 3 0 0 3
Mendelics 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 1
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 1 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 0 1 1

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