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
153 201 221 43 90 1 12 672

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
DYSF 136 192 137 30 50 0 6 520
ANO5 16 8 82 13 40 1 5 148
DYSF, LOC122787137 1 1 1 0 0 0 0 2
ANO5, LOC130005441 0 0 1 0 0 0 0 1
DYSF, LOC110121121 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Baylor Genetics 124 87 6 0 0 0 0 217
Illumina Laboratory Services, Illumina 0 0 164 27 9 0 0 200
Genome-Nilou Lab 0 0 24 14 89 0 0 127
Myriad Genetics, Inc. 2 92 3 0 0 0 0 97
Fulgent Genetics, Fulgent Genetics 20 11 29 2 2 0 0 64
OMIM 13 0 0 0 0 0 0 13
GeneReviews 0 0 0 0 0 0 7 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 0 0 0 0 0 0 6
Pars Genome Lab 0 0 5 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 3 1 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 3 0 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 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
3billion 0 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 0 0 0 0 0 1
Tan Tock Seng Hospital, National Healthcare Group 1 0 0 0 0 0 0 1
Department of Neurology, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 0 1
Neuropathology Laboratory of Hebei Province, The Second Hospital of Hebei Medical University 1 0 0 0 0 0 0 1
Genetics Research Group, Universidad San Francisco de Quito 1 0 0 0 0 0 0 1

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