ClinVar Miner

Variants in gene ANO5

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Gene type:
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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
131 93 730 388 104 1 39 1273

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 93 42 444 278 30 0 0 887
not provided 61 39 285 91 78 0 32 520
ANO5-Related Muscle Diseases 0 0 89 22 23 0 0 134
Limb-Girdle Muscular Dystrophy, Recessive 0 0 80 12 4 0 0 96
Miyoshi myopathy 0 0 80 12 4 0 0 96
Autosomal recessive limb-girdle muscular dystrophy type 2L 22 16 8 0 39 0 4 82
Gnathodiaphyseal dysplasia 7 4 7 4 38 0 2 60
not specified 0 0 15 31 24 0 0 60
Miyoshi muscular dystrophy 3 10 3 1 0 39 0 1 52
Inborn genetic diseases 0 0 27 1 0 0 0 28
ANO5-related condition 4 0 7 12 1 0 0 24
Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 5 3 1 1 2 0 4 16
ANO5-Related Disorders 2 1 4 0 0 0 4 10
Autosomal recessive limb-girdle muscular dystrophy 6 2 0 0 0 0 0 8
Myopathy 1 2 2 0 0 0 0 5
Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 2 1 0 0 0 1 0 4
Abnormality of the musculature 1 2 0 0 0 0 0 3
Elevated circulating creatine kinase concentration 0 2 1 0 0 0 0 3
Intellectual disability 0 0 0 3 0 0 0 3
Elevated circulating creatine kinase concentration; Distal muscle weakness; Fatty replacement of skeletal muscle 1 0 1 0 0 0 0 2
Limb-girdle muscular dystrophy 0 0 2 0 0 0 0 2
ANO5-related muscular dystrophy 1 0 0 0 0 0 0 1
Elevated circulating creatine kinase concentration; Polycystic kidney disease; 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
See cases 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 94 42 444 279 30 0 0 889
Eurofins Ntd Llc (ga) 41 6 177 5 19 0 0 248
GeneDx 17 12 41 84 79 0 0 233
Illumina Laboratory Services, Illumina 2 1 117 34 24 0 0 154
Revvity Omics, Revvity 22 14 102 0 0 0 0 138
CeGaT Center for Human Genetics Tuebingen 19 3 21 6 4 0 0 53
Athena Diagnostics Inc 10 3 25 5 9 0 0 52
PreventionGenetics, part of Exact Sciences 4 0 7 22 11 0 0 44
Genome-Nilou Lab 0 0 0 2 39 0 0 39
ANO5 @LOVD 0 0 0 0 0 0 32 32
Ambry Genetics 0 0 27 1 0 0 0 28
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 3 0 2 4 6 0 0 15
MGZ Medical Genetics Center 5 5 4 0 0 0 0 14
Mendelics 3 1 3 2 5 0 0 14
Mayo Clinic Laboratories, Mayo Clinic 4 1 9 0 0 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 2 3 1 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 9 0 0 11
Fulgent Genetics, Fulgent Genetics 5 2 1 1 2 0 0 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 5 0 0 0 0 0 11
Genetic Services Laboratory, University of Chicago 0 1 2 4 3 0 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 2 5 0 0 0 0 10
OMIM 9 0 0 0 0 0 0 9
Clinical Genetics, Academic Medical Center 2 0 0 0 7 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 1 1 4 1 0 0 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 3 0 1 4 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 5 0 0 7
GeneReviews 0 0 0 0 0 0 7 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 3 0 0 0 0 7
Baylor Genetics 4 0 2 0 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 4 0 0 6
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 0 5 0 0 6
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 5 0 0 0 0 0 0 5
Institute of Human Genetics, University of Wuerzburg 0 2 3 0 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 2 0 2 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 3 0 0 0 0 0 5
3billion 3 2 0 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 5 5
SIB Swiss Institute of Bioinformatics 1 3 0 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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Kariminejad - Najmabadi Pathology & Genetics Center 1 2 0 0 0 0 0 3
Bionano Laboratories 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
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
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 0 0 0 2
Institute for Molecular Bioscience, The University of Queensland 1 1 0 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, 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
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 0 1
Neuromuscular disorders lab, University of Helsinki 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 1

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