ClinVar Miner

Variants studied for congenital muscular dystrophy due to LMNA mutation

Included ClinVar conditions (11):
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
21 16 139 30 7 6 216

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
LMNA 18 11 125 27 6 6 190
LMNA, LOC129931597 2 4 6 1 1 0 14
LMNA, LOC126805877 1 1 8 2 0 0 12

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 5 3 89 21 2 0 120
Illumina Laboratory Services, Illumina 1 0 37 9 7 0 54
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 2 4 0 0 0 10
School of Medicine, Universitat de Girona 0 0 7 0 0 0 7
OMIM 5 0 0 0 0 0 5
Baylor Genetics 1 0 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Cardiogenetic Laboratory, Instituto Murciano de Investigación Biosanitaria 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1

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