ClinVar Miner

Variants in gene ALMS1

Minimum submission review status: Collection method:
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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 not provided total
259 180 1040 752 132 7 2151

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Alstrom syndrome 237 153 892 564 97 2 1860
not specified 0 0 127 172 86 0 348
not provided 25 18 149 107 41 5 337
Monogenic diabetes 0 0 6 38 26 0 70
Retinal dystrophy 11 11 4 0 0 0 26
Hearing impairment 0 1 3 0 0 0 4
Retinal dystrophy, early-onset severe 4 0 0 0 0 0 4
Bardet-Biedl syndrome 0 2 0 0 0 0 2
Nephrotic syndrome 0 0 2 0 0 0 2
Occult maculopathy 1 0 1 0 0 0 2
Retinitis pigmentosa 1 1 0 0 0 0 2
Complete trisomy 21 syndrome 0 0 1 0 0 0 1
Cone-rod degeneration 1 0 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Leukodystrophy; Visual impairment; Hearing impairment; Stage 5 chronic kidney disease 0 1 0 0 0 0 1
Stickler syndrome 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 179 20 468 453 93 0 1212
Counsyl 17 117 403 151 0 0 688
GeneDx 14 10 106 147 60 0 337
Natera, Inc. 7 2 120 40 45 0 214
Integrated Genetics/Laboratory Corporation of America 0 4 69 34 33 0 140
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 31 44 58 0 134
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 6 38 26 0 70
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 40 8 8 0 60
Illumina Clinical Services Laboratory,Illumina 0 0 41 6 5 0 52
Laboratory of Genetics in Ophthalmology,Institut Imagine 29 0 1 0 0 0 30
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 8 12 7 0 27
Genetic Services Laboratory, University of Chicago 5 0 13 8 0 0 26
Athena Diagnostics Inc 0 0 2 2 21 0 25
Blueprint Genetics 11 10 4 0 0 0 25
CeGaT Praxis fuer Humangenetik Tuebingen 6 4 8 5 0 0 23
Baylor Genetics 0 0 13 0 0 0 13
PreventionGenetics, PreventionGenetics 0 0 0 4 8 0 12
Fulgent Genetics,Fulgent Genetics 1 0 11 0 0 0 12
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 9 0 0 0 9
OMIM 8 0 0 0 0 0 8
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 2 5 0 0 0 0 7
Mendelics 5 0 0 0 1 0 6
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 2 4 0 0 0 6
Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University 0 0 0 0 0 5 5
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 5 0 0 0 0 0 5
Phosphorus, Inc. 0 1 3 0 1 0 5
Gharavi Laboratory,Columbia University 0 0 5 0 0 0 5
Molecular Genetics Laboratory,Institute for Ophthalmic Research 4 0 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 3 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 3 1 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 1 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
Sharon lab,Hadassah-Hebrew University Medical Center 1 2 0 0 0 0 3
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 3 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 0 3
Sydney Genome Diagnostics,Children's Hospital Westmead 0 1 2 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Medical Genetics, INSERM 2 0 0 0 0 0 2
Nilou-Genome Lab 1 0 0 1 0 0 2
Pars Genome Lab 0 0 0 2 0 0 2
Rare Diseases Lab,University of Vigo 2 0 0 0 0 0 2
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 1 0 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1 0 0 0 0 0 1
Center for Human Disease Modeling,Duke University Medical Center 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Pediatrics Research Institute,Children's Hospital of Fudan University 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Department of Neurology,Kindai University 1 0 0 0 0 0 1

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