ClinVar Miner

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

Included ClinVar conditions (4):
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
101 56 448 279 49 1 8 922

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
ANO5 101 56 448 279 49 1 8 922

Submitter and significance breakdown #

Total submitters: 35
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 94 42 444 278 30 0 0 888
Genome-Nilou Lab 0 0 0 0 39 0 0 39
MGZ Medical Genetics Center 5 4 4 0 0 0 0 13
Fulgent Genetics, Fulgent Genetics 5 2 1 1 2 0 0 11
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 2 3 0 0 0 0 8
OMIM 6 0 0 0 0 0 0 6
Athena Diagnostics Inc 4 0 0 0 0 0 0 4
GeneReviews 0 0 0 0 0 0 4 4
3billion 3 1 0 0 0 0 0 4
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 1 2 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 0 3
Center for Genetic Medicine Research, Children's National Medical Center 0 2 0 0 0 0 0 2
GeniaGeo, Laboratorio Genia 2 0 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 1 0 2
Institute for Molecular Bioscience, The University of Queensland 1 1 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Neuromuscular disorders lab, University of Helsinki 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.