ClinVar Miner

Variants studied for Miyoshi muscular dystrophy 1

Included ClinVar conditions (2):
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 not provided total
137 193 62 15 50 7 445

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DYSF 136 192 61 15 50 6 442
DYSF, LOC122787137 1 1 1 0 0 0 2
DYSF, LOC110121121 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 121 87 6 0 0 0 214
Myriad Genetics, Inc. 2 92 3 0 0 0 97
Genome-Nilou Lab 0 0 24 14 50 0 88
Fulgent Genetics, Fulgent Genetics 15 9 28 1 0 0 53
OMIM 10 0 0 0 0 0 10
GeneReviews 0 0 0 0 0 6 6
Pars Genome Lab 0 0 5 0 0 0 5
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 3 1 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 3 0 0 0 0 0 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 2 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 0 0 0 0 1
Tan Tock Seng Hospital, National Healthcare Group 1 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 1
3billion 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 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 1
Genetics Research Group, Universidad San Francisco de Quito 1 0 0 0 0 0 1

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