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
44 23 186 51 14 1 3 314

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 affects not provided total
ANO5 44 23 186 51 14 1 3 314

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 35 14 183 51 14 0 0 297
Broad Institute Rare Disease Group, Broad Institute 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 4 0 0 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 4 0 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 0 2 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 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
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1

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