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
89 101 174 32 22 1 373

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CAPN3 87 99 174 32 22 1 371
CAPN3, POMT1 1 1 0 0 0 0 1
CAPN3, SGCB 1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 55 15 105 21 19 0 215
Counsyl 22 86 59 5 0 0 172
Illumina Clinical Services Laboratory,Illumina 4 3 34 6 2 0 49
Athena Diagnostics Inc 15 1 0 0 1 0 17
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
Foundation for Research in Genetics and Endocrinology,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
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 0 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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 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.