ClinVar Miner

Variants studied for Limb-girdle muscular dystrophy, type 2A

Coded as:
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 total
75 104 131 32 22 324

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 total
CAPN3 73 102 131 32 22 322
CAPN3, POMT1 1 1 0 0 0 1
CAPN3, SGCB 1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 22 86 59 5 0 172
Invitae 32 15 57 21 19 144
Illumina Clinical Services Laboratory,Illumina 4 3 34 6 2 49
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 16 3 0 0 0 19
Athena Diagnostics Inc 15 1 0 0 1 17
OMIM 10 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 4 1 0 0 0 5
GeneReviews 5 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 3 1 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 2
Fulgent Genetics 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology 0 1 1 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 2
Neuromuscular Diagnostic Laboratory,American University of Beirut Medical Center 2 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 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Kariminejad-Najmabadi Pathology and Genetics Center,KNPGC 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 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.