ClinVar Miner

Variants in gene ALMS1

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 not provided total
131 159 817 499 122 7 1593

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Alstrom syndrome 109 134 673 298 95 2 1281
not provided 23 18 146 105 41 5 331
not specified 0 0 75 151 76 0 275
Monogenic diabetes 0 0 5 21 10 0 36
Retinal dystrophy 11 11 4 0 0 0 26
Bardet-Biedl syndrome 0 1 0 0 0 0 1
Cone-rod degeneration 1 0 0 0 0 0 1
Leukodystrophy; Visual impairment; Hearing impairment; Stage 5 chronic kidney disease 0 1 0 0 0 0 1
Retinitis pigmentosa 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 17 117 403 151 0 0 688
Invitae 72 5 270 215 93 0 654
GeneDx 14 10 106 147 60 0 337
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 21 28 54 0 103
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 40 8 8 0 60
Integrated Genetics/Laboratory Corporation of America 0 1 24 8 20 0 53
Illumina Clinical Services Laboratory,Illumina 0 0 41 6 5 0 52
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 5 21 10 0 36
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
Blueprint Genetics 11 10 4 0 0 0 25
Athena Diagnostics Inc 0 0 2 1 21 0 24
CeGaT Praxis fuer Humangenetik Tuebingen 6 4 6 4 0 0 20
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
Mendelics 5 0 0 0 1 0 6
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 5 0 0 0 0 5
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
Division of Genomic Diagnostics,The 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 1 0 3
Sharon lab,Hadassah-Hebrew University Medical Center 1 2 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 2 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Medical Genetics, INSERM 2 0 0 0 0 0 2
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 1 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
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
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1

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