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
97 11 169 27 10 1 3 312

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 82 9 87 15 6 0 0 194
ANO5 15 2 82 12 4 1 3 118

Submitter and significance breakdown #

Total submitters: 13
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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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 87 3 0 0 0 0 0 90
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 3 3
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

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