ClinVar Miner

Variants studied for Miyoshi myopathy

Included ClinVar conditions (9):
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
188 279 230 43 90 1 15 779

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 170 261 145 30 50 0 9 618
ANO5 17 17 83 13 40 1 5 157
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: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Baylor Genetics 143 111 6 0 0 0 0 260
Illumina Laboratory Services, Illumina 0 0 164 27 9 0 0 200
Fulgent Genetics, Fulgent Genetics 58 75 33 2 2 0 0 170
Genome-Nilou Lab 0 0 24 14 89 0 0 127
Myriad Genetics, Inc. 2 92 3 0 0 0 0 97
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
3billion 0 2 4 0 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 2 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
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
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 3 0 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 3 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 0 2
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 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
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
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 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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