ClinVar Miner

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

Included ClinVar conditions (2):
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
159 124 335 159 26 2 693

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 not provided total
CAPN3 159 124 335 159 26 2 693

Submitter and significance breakdown #

Total submitters: 34
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 132 19 205 140 22 0 518
Counsyl 23 85 59 5 0 0 172
Natera, Inc. 17 1 70 11 13 0 112
Illumina Clinical Services Laboratory,Illumina 5 4 69 14 6 0 98
Broad Institute Rare Disease Group, Broad Institute 11 10 8 0 0 0 29
Baylor Genetics 8 2 6 0 0 0 16
Athena Diagnostics Inc 13 1 0 0 1 0 15
Myriad Women's Health, Inc. 2 9 1 0 0 0 12
OMIM 10 0 0 0 0 0 10
Fulgent Genetics,Fulgent Genetics 7 1 1 0 0 0 9
Genetic Services Laboratory, University of Chicago 4 1 0 0 0 0 5
GeneReviews 5 0 0 0 0 0 5
Mendelics 2 0 0 0 2 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 1 0 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Neuromuscular Diagnostic Laboratory,American University of Beirut Medical Center 2 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Medical Genetic Department,The Affiliated Hospital of Qingdao University 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Kariminejad-Najmabadi Pathology and Genetics Center,KNPGC 0 1 0 0 0 0 1
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 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.