ClinVar Miner

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

Included ClinVar conditions (1):
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
83 64 154 214 7 1 477

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
SGCB 63 53 134 185 7 1 405
LOC129992585, SGCB 19 11 19 29 0 0 70
LOC129992584, LOC129992585, SGCB 1 0 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 66 6 120 212 7 0 411
Revvity Omics, Revvity 16 13 37 0 0 0 66
Natera, Inc. 6 1 38 3 2 0 50
Baylor Genetics 17 23 0 0 0 0 40
Counsyl 1 18 10 1 0 0 30
OMIM 9 0 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 2 1 6 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 2 4 3 0 0 0 9
Mendelics 4 1 0 0 0 0 5
Myriad Genetics, Inc. 1 3 0 0 0 0 4
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 0 2
Pars Genome Lab 0 0 1 0 1 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Athena Diagnostics Inc 1 0 0 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genexplore Diagnostics and Research Centre Pvt. Ltd., NA 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1

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