ClinVar Miner

Variants studied for Miyoshi muscular dystrophy 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
13 3 0 0 0 16

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic total
DYSF 13 3 16

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic total
OMIM 10 0 10
Genetic Diseases Diagnostic Center,Koc University Hospital 0 2 2
Center for Genetic Medicine Research,Children's National Medical Center 0 1 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 1
Tan Tock Seng Hospital,National Healthcare Group 1 0 1
Department of Neurology, Guangzhou First People’s Hospital,School of Medicine, South China University of Technology 1 0 1

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