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
52 59 268 54 22 2 4 443

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 27 51 99 27 12 1 0 202
DYSF 16 7 87 15 6 0 1 129
ANO5 8 1 82 12 4 1 3 111
SQSTM1 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Illumina Clinical Services Laboratory,Illumina 2 0 198 48 18 0 0 266
Counsyl 7 44 34 0 0 0 0 85
Invitae 9 3 32 6 4 0 0 54
OMIM 28 0 0 0 0 0 0 28
Fulgent Genetics,Fulgent Genetics 11 7 4 0 0 0 0 22
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
GeneReviews 4 0 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Sema4,Sema4 2 0 1 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 3 0 0 0 0 0 0 3
Genetic Diseases Diagnostic Center,Koc University Hospital 0 3 0 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
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 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
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
Emory University School of Medicine, Department of Human Genetics,Emory University 1 0 0 0 0 0 0 1

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