ClinVar Miner

Variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2E

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
93 89 186 228 7 1 547

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 not provided total
SGCB 71 74 161 198 7 1 465
LOC129992585, SGCB 21 14 24 30 0 0 79
LOC129992584, LOC129992585, SGCB 1 0 1 0 0 0 2
​intergenic 0 1 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 not provided total
Labcorp Genetics (formerly Invitae), Labcorp 72 9 120 226 7 0 434
Natera, Inc. 12 28 63 3 2 0 108
Revvity Omics, Revvity 22 13 42 0 0 0 77
Baylor Genetics 19 27 1 0 0 0 47
Counsyl 1 18 10 1 0 0 30
Fulgent Genetics, Fulgent Genetics 8 7 6 0 0 0 21
Neuberg Centre For Genomic Medicine, NCGM 3 6 2 0 0 0 11
OMIM 9 0 0 0 0 0 9
Myriad Genetics, Inc. 2 4 0 0 0 0 6
3billion 3 1 1 0 0 0 5
Mendelics 4 1 0 0 0 0 5
Genome-Nilou Lab 0 0 2 1 1 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 1 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 1 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Pars Genome Lab 0 0 1 0 1 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
Athena Diagnostics 1 0 0 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genexplore Diagnostics and Research Centre Pvt. Ltd., NA 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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