ClinVar Miner

Variants in gene ANO5

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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
59 33 313 54 28 1 35 446

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
not provided 40 12 191 6 3 0 32 269
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 12 5 66 9 12 0 0 104
Limb-Girdle Muscular Dystrophy, Recessive 0 0 81 12 4 0 0 97
Miyoshi myopathy 0 0 81 12 4 0 0 97
not specified 0 0 12 35 22 0 0 56
Limb-girdle muscular dystrophy, type 2L 19 12 4 0 0 0 0 32
Miyoshi muscular dystrophy 3 12 1 1 0 0 0 0 14
ANO5-Related Disorders 2 1 4 0 0 0 0 7
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L; Miyoshi muscular dystrophy 3 4 0 0 0 0 0 3 7
See cases 0 0 6 0 0 0 0 6
Gnathodiaphyseal dysplasia 4 0 1 0 0 0 0 5
Limb-girdle muscular dystrophy, type 2L; Miyoshi muscular dystrophy 3 1 1 0 0 0 1 0 3
Muscular Diseases 1 2 0 0 0 0 0 3
Elevated serum creatine phosphokinase 0 2 0 0 0 0 0 2
Elevated serum creatine phosphokinase; Distal muscle weakness; Fatty replacement of skeletal muscle 1 0 1 0 0 0 0 2
Elevated serum creatine phosphokinase; Polycystic kidney dysplasia; Achilles tendon contracture; Lower limb amyotrophy; Lower limb muscle weakness 1 0 0 0 0 0 0 1
Muscular dystrophy 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 41 6 177 5 19 0 0 248
Invitae 15 6 66 9 12 0 0 108
Illumina Clinical Services Laboratory,Illumina 2 1 85 12 4 0 0 104
GeneDx 12 8 20 20 12 0 0 72
ANO5 @LOVD 0 0 0 0 0 0 32 32
Athena Diagnostics Inc 5 1 12 6 4 0 0 28
PreventionGenetics 0 0 0 11 10 0 0 21
OMIM 9 0 0 0 0 0 0 9
Genetic Services Laboratory, University of Chicago 0 1 2 4 2 0 0 9
GeneReviews 7 0 0 0 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 5 1 0 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 5 0 0 6
Broad Institute Rare Disease Group,Broad Institute 2 1 2 0 0 0 0 5
Fulgent Genetics 4 0 0 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 1 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 3 1 0 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 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
ISCA site 1 0 0 2 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 0 2
Institute of Human Genetics,University of Wuerzburg 0 2 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
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
ISCA site 6 0 0 1 0 0 0 0 1
Neuromuscular disorders lab,University of Helsinki 1 0 0 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 1

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