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
70 37 385 100 68 1 35 576

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
not provided 47 14 199 25 32 0 32 318
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 23 10 113 21 15 0 0 182
ANO5-Related Muscle Diseases 0 0 90 22 23 0 0 135
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 11 34 22 0 0 56
Limb-girdle muscular dystrophy, type 2L 18 9 5 0 0 0 0 29
Gnathodiaphyseal dysplasia 6 1 3 2 5 0 0 17
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
Myopathy 1 2 2 0 0 0 0 5
Miyoshi muscular dystrophy 3 3 0 1 0 0 0 0 4
Limb-girdle muscular dystrophy, type 2L; Miyoshi muscular dystrophy 3 1 1 0 0 0 1 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
Hereditary fructosuria 1 0 0 0 0 0 0 1
Muscular dystrophy 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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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 25 10 113 31 15 0 0 194
Illumina Clinical Services Laboratory,Illumina 2 1 118 34 24 0 0 155
GeneDx 12 8 20 30 38 0 0 108
Athena Diagnostics Inc 7 1 14 4 7 0 0 33
ANO5 @LOVD 0 0 0 0 0 0 32 32
CeGaT Praxis fuer Humangenetik Tuebingen 10 1 14 1 0 0 0 26
PreventionGenetics,PreventionGenetics 0 0 0 11 10 0 0 21
Mendelics 2 0 2 2 5 0 0 11
OMIM 9 0 0 0 0 0 0 9
Genetic Services Laboratory, University of Chicago 0 1 2 4 2 0 0 9
Broad Institute Rare Disease Group,Broad Institute 3 2 3 0 0 0 0 8
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 0 0 0 5 0 0 7
GeneReviews 7 0 0 0 0 0 0 7
Fulgent Genetics,Fulgent Genetics 4 0 0 0 0 0 0 4
Institute of Human Genetics,University of Wuerzburg 0 2 2 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
Lineagen, Inc 0 0 2 0 0 0 0 2
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
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
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 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
Hadassah Hebrew University Medical Center 0 1 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1

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