ClinVar Miner

Variants studied for congenital multicore myopathy with external ophthalmoplegia

Included ClinVar conditions (2):
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 2 22 0 0 45

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
RYR1 22 2 22 45

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance total
Fulgent Genetics,Fulgent Genetics 5 1 17 23
OMIM 13 0 0 13
Baylor Genetics 3 0 1 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 4 4
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 1 0 2

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