ClinVar Miner

Variants studied for autosomal recessive distal myopathy

Included ClinVar conditions (10):
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
95 115 367 109 24 2 5 673

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
GNE 56 67 187 80 14 1 1 365
DYSF 25 47 98 17 6 0 1 191
ANO5 13 1 82 12 4 1 3 116
SQSTM1 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Illumina Clinical Services Laboratory,Illumina 2 0 235 48 19 0 0 304
Invitae 45 9 81 60 4 0 0 199
Counsyl 5 45 35 0 0 0 0 85
Myriad Women's Health, Inc. 5 46 0 0 0 0 0 51
Natera, Inc. 9 2 22 4 3 0 0 40
OMIM 28 0 0 0 0 0 0 28
Fulgent Genetics,Fulgent Genetics 11 7 4 0 0 0 0 22
Baylor Genetics 10 2 7 0 0 0 0 19
GeneReviews 11 0 0 0 0 0 0 11
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 3 0 0 0 0 2 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 0 0 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 3 0 0 0 0 4
Nilou-Genome Lab 0 0 2 2 0 0 0 4
Sema4,Sema4 2 0 1 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 0 0 3
Genetic Diseases Diagnostic Center,Koc University Hospital 0 3 0 0 0 0 0 3
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 2 0 1 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 2
GenePathDx,Causeway Health Care Private Ltd 2 0 0 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 1 1 0 0 0 0 0 2
Department of Neurology, Guangzhou First People’s Hospital,School of Medicine, South China University of Technology 2 0 0 0 0 0 0 2
Pars Genome Lab 0 0 2 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 1
FirmaLab,FirmaLab 1 0 0 0 0 0 0 1
Mayo Clinic 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
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 0 1
Emory University School of Medicine, Department of Human Genetics,Emory University 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 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

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