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
87 70 153 223 7 1 495

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 67 57 132 194 7 1 421
LOC129992585, SGCB 19 13 20 29 0 0 72
LOC129992584, LOC129992585, SGCB 1 0 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 69 9 117 221 7 0 423
Revvity Omics, Revvity 16 13 37 0 0 0 66
Natera, Inc. 6 1 38 3 2 0 50
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 4 5 2 0 0 0 11
OMIM 9 0 0 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
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
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
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
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 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
Institute of Human Genetics, University of Leipzig Medical Center 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, Medical Genetics 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
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
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1

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