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 not provided total
91 105 182 14 5 1 354

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CAPN3 91 105 182 14 5 1 354

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 55 15 104 3 1 0 178
Counsyl 25 86 59 5 0 0 175
Illumina Clinical Services Laboratory,Illumina 4 3 34 6 2 0 49
Broad Institute Rare Disease Group,Broad Institute 11 10 8 0 0 0 29
Athena Diagnostics Inc 13 1 0 0 1 0 15
OMIM 10 0 0 0 0 0 10
Baylor Genetics 4 1 0 0 0 0 5
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
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 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
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

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