ClinVar Miner

Variants studied for Miyoshi myopathy

Included ClinVar conditions (6):
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 affects not provided total
24 8 169 27 10 1 4 240

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
DYSF 16 7 87 15 6 0 1 129
ANO5 8 1 82 12 4 1 3 111

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 164 27 9 0 0 200
Fulgent Genetics,Fulgent Genetics 9 3 3 0 0 0 0 15
OMIM 13 0 0 0 0 0 0 13
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 2
Genetic Diseases Diagnostic Center,Koc University Hospital 0 2 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 0 0 0 0 1 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 0 1
GeneReviews 1 0 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1
Tan Tock Seng Hospital,National Healthcare Group 1 0 0 0 0 0 0 1

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